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Items: 1 to 20 of 133

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112661copy number variation1nstd102humanPathogenic GRCh37 chr1: 231,407,943-237,289,859 , GRCh38.p12 chr1: 231,272,197-237,126,559 LOC105373207, LOC105373210, 113 more genes
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv5211573copy number variation1nstd204human GRCh38.p13 chr1: 234,757,429-234,776,395 , GRCh37.p13 chr1: 234,893,176-234,912,142 LINC02961, LOC107985364
    nsv5201697copy number variation1nstd204human GRCh38.p13 chr1: 234,758,201-234,801,900 , GRCh37.p13 chr1: 234,893,948-234,937,647 LOC107985364, LINC02961
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4684187copy number variation1nstd102humanPathogenic GRCh37 chr1: 210,152,794-249,218,992 , GRCh38.p12 chr1: 209,979,449-248,924,793 HLX-AS1, OPN3, 740 more genes
    nsv4674785copy number variation1nstd102humanPathogenic GRCh37 chr1: 219,916,966-239,004,378 , GRCh38.p12 chr1: 219,743,624-238,841,078 RPL23AP23, LOC101927143, 414 more genes
    nsv4674170copy number variation1nstd102humanPathogenic GRCh37 chr1: 228,832,737-240,993,877 , GRCh38.p12 chr1: 228,696,990-240,830,577 LOC105373224, NUP133-DT, 208 more genes
    nsv4674140copy number variation1nstd102humanPathogenic GRCh37 chr1: 204,045,948-249,218,992 , GRCh38.p12 chr1: 204,076,820-248,924,793 RNA5S8, NTPCR, 893 more genes
    nsv4674008copy number variation1nstd102humanPathogenic GRCh37 chr1: 233,843,930-237,971,511 , GRCh38.p12 chr1: 233,708,184-237,808,211 LGALS8-AS1, MTND6P14, 75 more genes
    nsv4452127copy number variation1nstd102humanUncertain significance GRCh37 chr1: 234,766,803-235,251,324 , GRCh38.p12 chr1: 234,631,057-235,088,009 LOC105373210, LOC105373207, 12 more genes
    nsv4450583copy number variation1nstd102humanPathogenic GRCh37 chr1: 182,388,773-249,111,240 , GRCh38.p12 chr1: 182,419,638-248,817,041 RGS18, LINC02257, 1186 more genes
    nsv4346874copy number variation1nstd102humanPathogenic GRCh37 chr1: 234,742,890-239,475,761 , GRCh38.p12 chr1: 234,607,144-239,312,461 LINC01348, LINC00184, 82 more genes
    nsv4346528copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 234,546,246-238,716,872 , GRCh38.p12 chr1: 234,410,500-238,553,572 ACTN2, LYST, 81 more genes
    nsv4334550sequence alteration1nstd166human GRCh37.p13 chr1: 234,891,196-234,911,961 , GRCh38.p12 chr1: 234,755,449-234,776,214 LINC02961, LOC107985364
    nsv3921757copy number variation1nstd102humannot provided NCBI36 chr1: 214,401,568-247,249,719 , GRCh37.p13 chr1: 216,334,945-249,233,096 , GRCh38.p12 chr1: 216,161,603-248,938,897 MTCYBP15, RNU4-77P, 658 more genes
    nsv3914847copy number variation1nstd102humanPathogenic NCBI36 chr1: 223,116,610-247,199,719 , GRCh37.p13 chr1: 225,049,987-249,233,096 , GRCh38.p12 chr1: 224,862,285-248,938,897 RNU6-1089P, TRE-CTC2-1, 518 more genes
    nsv3912845copy number variation1nstd102humanPathogenic NCBI36 chr1: 230,713,047-240,722,962 , GRCh37.p13 chr1: 232,646,424-242,656,339 , GRCh38.p12 chr1: 232,510,678-242,493,037 RNU4-77P, MTCYBP15, 158 more genes
    nsv3906964copy number variation1nstd102humanPathogenic GRCh37 chr1: 224,075,482-249,185,508 , NCBI36 chr1: 222,142,105-247,152,131 , GRCh38 chr1: 223,887,780-248,891,309 KIF26B, RPSAP21, 542 more genes
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