Gene Symbol | Chromosome | Start | End | Name | Strand | Variation Type | PMID | Method | Sample Size | Observer Gain | Observed Loss |
---|
GCDH | chr19 | 12777700 | 13206300 | nsv953977 | + | deletion | 24416366 | Sequencing | 1 | 0 | 1 |
GCDH | chr19 | 12987021 | 13139000 | nsv833754 | + | loss | 17160897 | BAC aCGH | 95 | 0 | 1 |
GCDH | chr19 | 13004662 | 13008605 | nsv961183 | + | duplication | 23825009 | Oligo aCGH, Sequencing | 97 | 10 | 0 |
GCDH | chr19 | 13009055 | 13058969 | nsv1160589 | + | duplication | 26073780 | Sequencing, SNP array | 369 | 1 | 0 |
GCDH | chr19 | 13016180 | 13021619 | esv3643715 | + | loss | 21293372 | Sequencing | 2504 | 0 | 1 |
GCDH | chr19 | 13016533 | 13024603 | esv3583254 | + | loss | 25503493 | SNP array | 873 | 0 | 1 |
GCDH | chr19 | 13022836 | 13023258 | esv3643716 | + | loss | 21293372 | Sequencing | 2504 | 0 | 68 |
GCDH | chr19 | 13022841 | 13023256 | esv2668234 | + | deletion | 23128226 | Merging, Oligo aCGH, PCR, Sequencing, SNP array | 1151 | 0 | 8 |
GFER | chr16 | 60000 | 2773165 | esv2422427 | + | duplication | 17116639 | qPCR, SNP array | 181 | 1 | 0 |
GFER | chr16 | 1938800 | 2185900 | nsv952901 | + | deletion | 24416366 | Sequencing | 1 | 0 | 1 |
GFER | chr16 | 1997613 | 2074219 | nsv471070 | + | gain | 18288195 | SNP array | 443 | 2 | 0 |
GFER | chr16 | 1997613 | 2045731 | nsv571179 | + | loss | 21841781 | Oligo aCGH, SNP array | 17421 | 0 | 1 |
GFER | chr16 | 2005562 | 2088585 | dgv4858n54 | + | loss | 21841781 | Oligo aCGH, SNP array | 17421 | 0 | 5 |
GFER | chr16 | 2011727 | 2178575 | nsv1160329 | + | deletion | 26073780 | Sequencing, SNP array | 369 | 0 | 1 |
GFER | chr16 | 2015120 | 2088585 | dgv336n27 | + | loss | 19166990 | Oligo aCGH, SNP array | 1557 | 0 | 2 |
GFER | chr16 | 2021892 | 2367509 | nsv471072 | + | loss | 18288195 | SNP array | 443 | 0 | 6 |
GFER | chr16 | 2021892 | 2314401 | dgv4859n54 | + | loss | 21841781 | Oligo aCGH, SNP array | 17421 | 0 | 2 |
GFER | chr16 | 2021892 | 2133901 | nsv523037 | + | loss | 19592680 | SNP array | 2026 | 0 | 1 |
GFER | chr16 | 2021892 | 2085997 | nsv521569 | + | loss | 19592680 | SNP array | 2026 | 0 | 1 |
IVD | chr15 | 40549616 | 40889824 | esv34145 | + | loss | 18971310 | SNP array | 270 | 0 | 0 |
IVD | chr15 | 40552905 | 40721883 | nsv510660 | + | deletion | 20534489 | BAC aCGH, Oligo aCGH, Optical mapping, Sequencing | 4 | 0 | 1 |
IVD | chr15 | 40710766 | 40710833 | esv2749600 | + | deletion | 23290073 | Sequencing | 96 | 0 | 1 |
IVD | chr15 | 40714977 | 40714978 | esv1409557 | + | insertion | 17803354 | Merging, Oligo aCGH, Sequencing, SNP array | 2 | 1 | 0 |
IYD | chr6 | 150517410 | 150691173 | nsv830843 | + | gain+loss | 17160897 | BAC aCGH | 95 | 1 | 5 |
IYD | chr6 | 150581192 | 150720666 | esv2763602 | + | loss | 21179565 | Merging, SNP array | 1109 | 0 | 1 |
IYD | chr6 | 150693130 | 150694118 | esv2625832 | + | insertion | 19546169 | Sequencing | 1 | 1 | 0 |
IYD | chr6 | 150693269 | 150694457 | esv2732880 | + | deletion | 23290073 | Sequencing | 96 | 0 | 29 |
IYD | chr6 | 150693346 | 150693748 | esv2732881 | + | deletion | 23290073 | Sequencing | 96 | 0 | 3 |
IYD | chr6 | 150693506 | 150693920 | esv2732882 | + | deletion | 23290073 | Sequencing | 96 | 0 | 5 |
IYD | chr6 | 150693554 | 150693634 | esv2732883 | + | deletion | 23290073 | Sequencing | 96 | 0 | 2 |
IYD | chr6 | 150693562 | 150693689 | esv1594235 | + | deletion | 17803354 | Merging, Oligo aCGH, Sequencing, SNP array | 2 | 0 | 1 |
IYD | chr6 | 150693610 | 150693677 | esv2732885 | + | deletion | 23290073 | Sequencing | 96 | 0 | 1 |
IYD | chr6 | 150693630 | 150693928 | esv2732886 | + | deletion | 23290073 | Sequencing | 96 | 0 | 10 |
IYD | chr6 | 150693715 | 150693780 | esv1485241 | + | deletion | 17803354 | Merging, Oligo aCGH, Sequencing, SNP array | 2 | 0 | 1 |
IYD | chr6 | 150693840 | 150693907 | nsv1109824 | + | deletion | 24896259 | Sequencing | 2 | 0 | 1 |
IYD | chr6 | 150693840 | 150693907 | esv3540631 | + | deletion | 23714750 | Sequencing | 767 | 0 | 1 |
IYD | chr6 | 150720438 | 150729878 | nsv604849 | + | loss | 21841781 | Oligo aCGH, SNP array | 17421 | 0 | 1 |
IYD | chr6 | 150720438 | 150729878 | nsv464078 | + | loss | 19166990 | Oligo aCGH, SNP array | 1557 | 0 | 1 |
IYD | chr6 | 150722648 | 150722937 | nsv819256 | + | gain | 19587683 | Oligo aCGH, Sequencing, SNP array | 2 | 1 | 0 |
KDM1A | chr1 | 23372165 | 23372174 | esv3425192 | + | insertion | 20981092 | Digital array, Oligo aCGH, PCR, Sequencing | 185 | 1 | 0 |
KDM1A | chr1 | 23404368 | 23423046 | nsv6520 | + | insertion | 18451855 | FISH, Multiple complete digestion, Oligo aCGH, Sequencing | 9 | 1 | 0 |
L2HGDH | chr14 | 49893687 | 50942527 | esv28926 | + | gain+loss | 19812545 | Oligo aCGH | 40 | 35 | 1 |
L2HGDH | chr14 | 50491199 | 50906471 | nsv564835 | + | gain | 21841781 | Oligo aCGH, SNP array | 17421 | 1 | 0 |
L2HGDH | chr14 | 50717813 | 50727013 | esv3551539 | + | deletion | 23714750 | Sequencing | 767 | 0 | 1 |
L2HGDH | chr14 | 50717860 | 50727010 | esv2664640 | + | deletion | 23128226 | Merging, Oligo aCGH, PCR, Sequencing, SNP array | 1151 | 0 | 3 |
L2HGDH | chr14 | 50717862 | 50727068 | esv3634474 | + | loss | 21293372 | Sequencing | 2504 | 0 | 6 |
L2HGDH | chr14 | 50723933 | 50732475 | esv3634475 | + | loss | 21293372 | Sequencing | 2504 | 0 | 1 |
L2HGDH | chr14 | 50746911 | 50746984 | nsv1122900 | + | deletion | 24896259 | Sequencing | 2 | 0 | 1 |
L2HGDH | chr14 | 50754210 | 50755648 | esv3634476 | + | loss | 21293372 | Sequencing | 2504 | 0 | 1 |
L2HGDH | chr14 | 50758252 | 50831339 | nsv1052059 | + | loss | 25217958 | Oligo aCGH, SNP array | 29084 | 0 | 1 |