Gene Symbol | Chromosome | Start | End | Name | Strand | Variation Type | PMID | Method | Sample Size | Observer Gain | Observed Loss |
---|
L2HGDH | chr14 | 50760962 | 50937575 | nsv832793 | + | loss | 17160897 | BAC aCGH | 95 | 0 | 1 |
MTHFR | chr1 | 11857710 | 11862778 | nsv518652 | + | loss | 19592680 | SNP array | 2026 | 0 | 1 |
MTRR | chr5 | 7538236 | 8706343 | nsv597003 | + | gain | 21841781 | Oligo aCGH, SNP array | 17421 | 1 | 0 |
MTRR | chr5 | 7757811 | 7854289 | nsv597004 | + | gain | 21841781 | Oligo aCGH, SNP array | 17421 | 1 | 0 |
MTRR | chr5 | 7860403 | 8093077 | nsv597005 | + | gain | 21841781 | Oligo aCGH, SNP array | 17421 | 1 | 0 |
MTRR | chr5 | 7864900 | 7864937 | esv3425786 | + | insertion | 20981092 | Digital array, Oligo aCGH, PCR, Sequencing | 185 | 1 | 0 |
MTRR | chr5 | 7864901 | 7864903 | esv3310380 | + | mobile element insertion | 20981092 | Digital array, Oligo aCGH, PCR, Sequencing | 185 | 1 | 0 |
MTRR | chr5 | 7864930 | 7864945 | esv3420263 | + | insertion | 20981092 | Digital array, Oligo aCGH, PCR, Sequencing | 185 | 9 | 0 |
MTRR | chr5 | 7864931 | 7864933 | esv3304082 | + | mobile element insertion | 20981092 | Digital array, Oligo aCGH, PCR, Sequencing | 185 | 10 | 0 |
MTRR | chr5 | 7882969 | 7884210 | esv2729709 | + | deletion | 23290073 | Sequencing | 96 | 0 | 11 |
MTRR | chr5 | 7883483 | 7883658 | esv2663385 | + | deletion | 23128226 | Merging, Oligo aCGH, PCR, Sequencing, SNP array | 1151 | 0 | 54 |
MTRR | chr5 | 7883554 | 7883632 | esv2729710 | + | deletion | 23290073 | Sequencing | 96 | 0 | 2 |
MTRR | chr5 | 7887108 | 7896511 | dgv334n21 | + | gain | 19592680 | SNP array | 2026 | 2 | 0 |
MTRR | chr5 | 7890891 | 7933471 | nsv508345 | + | deletion | 20534489 | BAC aCGH, Oligo aCGH, Optical mapping, Sequencing | 4 | 0 | 1 |
MTRR | chr5 | 7891100 | 7891151 | esv3064921 | + | deletion | 24192839 | Sequencing | 1 | 0 | 1 |
MTRR | chr5 | 7895185 | 7927395 | nsv4705 | + | insertion | 18451855 | FISH, Multiple complete digestion, Oligo aCGH, Sequencing | 9 | 1 | 0 |
NDUFV1 | chr11 | 67234321 | 67626901 | esv2422195 | + | duplication | 17116639 | qPCR, SNP array | 181 | 1 | 0 |
NDUFV1 | chr11 | 67319915 | 67764068 | dgv1214n100 | + | gain | 25217958 | Oligo aCGH, SNP array | 29084 | 7 | 0 |
NDUFV1 | chr11 | 67346742 | 67816936 | dgv1981n54 | + | gain | 21841781 | Oligo aCGH, SNP array | 17421 | 2 | 0 |
NDUFV1 | chr11 | 67352688 | 67816936 | nsv468606 | + | gain | 19166990 | Oligo aCGH, SNP array | 1557 | 1 | 0 |
NDUFV1 | chr11 | 67372476 | 67433869 | dgv1982n54 | + | loss | 21841781 | Oligo aCGH, SNP array | 17421 | 0 | 2 |
NDUFV1 | chr11 | 67372476 | 67433869 | dgv154n27 | + | loss | 19166990 | Oligo aCGH, SNP array | 1557 | 0 | 2 |
NDUFV1 | chr11 | 67375500 | 67417400 | nsv951023 | + | deletion | 24416366 | Sequencing | 1 | 0 | 1 |
NDUFV2 | chr18 | 9111495 | 9112086 | esv2664728 | + | deletion | 23128226 | Merging, Oligo aCGH, PCR, Sequencing, SNP array | 1151 | 0 | 14 |
NDUFV2 | chr18 | 9111532 | 9112128 | esv3641733 | + | loss | 21293372 | Sequencing | 2504 | 0 | 45 |
PNPO | chr17 | 45887950 | 46029432 | nsv518892 | + | loss | 19592680 | SNP array | 2026 | 0 | 1 |
PNPO | chr17 | 45998636 | 46019626 | nsv2072 | + | deletion | 18451855 | FISH, Multiple complete digestion, Oligo aCGH, Sequencing | 9 | 0 | 1 |
PNPO | chr17 | 46019227 | 46029457 | esv1000014 | + | deletion | 20482838 | Oligo aCGH, Sequencing, SNP array | 3 | 0 | 1 |
POR | chr7 | 74489888 | 76550045 | nsv528969 | + | gain | 19592680 | SNP array | 2026 | 1 | 0 |
POR | chr7 | 75070046 | 76271236 | dgv120n16 | + | deletion | 17901297 | FISH, Oligo aCGH, PCR, Sequencing | 2 | 0 | 1 |
POR | chr7 | 75532526 | 75547870 | esv3571928 | + | loss | 25503493 | SNP array | 873 | 0 | 2 |
POR | chr7 | 75535567 | 75536358 | nsv512913 | + | insertion | 21212237 | Sequencing, SNP array | 1 | 1 | 0 |
POR | chr7 | 75535999 | 75536667 | esv2455300 | + | insertion | 19546169 | Sequencing | 1 | 1 | 0 |
POR | chr7 | 75536170 | 75536171 | esv1568950 | + | insertion | 17803354 | Merging, Oligo aCGH, Sequencing, SNP array | 2 | 1 | 0 |
POR | chr7 | 75542101 | 75665848 | esv3613742 | + | loss | 21293372 | Sequencing | 2504 | 0 | 1 |
POR | chr7 | 75547222 | 75559267 | esv3613743 | + | loss | 21293372 | Sequencing | 2504 | 0 | 1 |
POR | chr7 | 75551980 | 75553455 | nsv970539 | + | duplication | 23825009 | Oligo aCGH, Sequencing | 97 | 10 | 0 |
POR | chr7 | 75563848 | 75802680 | nsv428173 | + | gain | 18775914 | BAC aCGH, FISH, PCR | 62 | 2 | 0 |
POR | chr7 | 75566758 | 75587234 | esv3613744 | + | loss | 21293372 | Sequencing | 2504 | 0 | 1 |
POR | chr7 | 75571786 | 75572309 | esv2674423 | + | deletion | 23128226 | Merging, Oligo aCGH, PCR, Sequencing, SNP array | 1151 | 0 | 9 |
POR | chr7 | 75571787 | 75572279 | esv3613745 | + | loss | 21293372 | Sequencing | 2504 | 0 | 41 |
POR | chr7 | 75594412 | 75633194 | esv3613746 | + | loss | 21293372 | Sequencing | 2504 | 0 | 2 |
POR | chr7 | 75601648 | 75603522 | esv3613747 | + | loss | 21293372 | Sequencing | 2504 | 0 | 1 |
POR | chr7 | 75608673 | 75616577 | nsv607517 | + | loss | 21841781 | Oligo aCGH, SNP array | 17421 | 0 | 1 |
POR | chr7 | 75608700 | 75625400 | nsv951359 | + | deletion | 24416366 | Sequencing | 1 | 0 | 1 |
POR | chr7 | 75614104 | 75614781 | nsv824168 | + | gain | 20364138 | Oligo aCGH | 31 | 1 | 0 |
PRODH | chr22 | 18551794 | 19061713 | esv2758824 | + | gain+loss | 17122850 | BAC aCGH, SNP array | 270 | 30 | 80 |
PRODH | chr22 | 18626636 | 19026613 | nsv516997 | + | gain+loss | 19592680 | SNP array | 2026 | 33 | 21 |
PRODH | chr22 | 18632375 | 19030336 | esv2751935 | + | loss | 17911159 | SNP array | 771 | 0 | 3 |
PRODH | chr22 | 18640299 | 19057790 | dgv173e55 | + | gain | 17911159 | SNP array | 771 | 9 | 0 |