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Items: 1 to 20 of 132

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5061540mobile element insertion1nstd203human GRCh38 chr1: 77,807,823-77,807,838 , GRCh37.p13 chr1: 78,273,508-78,273,523 LOC653631, MIGA1
    nsv4888344inversion1nstd200human GRCh37 chr1: 51,769,169-94,478,994 , GRCh38.p12 chr1: 51,303,497-94,013,438 , ST13P20, 664 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4680287copy number variation1nstd189human GRCh37.p13 chr1: 77,366,676-80,161,301 , GRCh38.p12 chr1: 76,900,991-79,695,616 PTGFR, FUBP1, 42 more genes
    nsv4674427copy number variation1nstd102humanUncertain significance GRCh37 chr1: 78,257,937-79,159,519 , GRCh38.p12 chr1: 77,792,252-78,693,834 LOC100131495, RNA5SP22, 19 more genes
    nsv4454000copy number variation1nstd102humanPathogenic GRCh37 chr1: 67,851,233-86,101,340 , GRCh38.p12 chr1: 67,385,550-85,635,657 NEXN, LOC107985391, 209 more genes
    nsv4452737copy number variation2nstd102humanUncertain significance GRCh37 chr1: 78,186,240-81,611,776 , GRCh38.p12 chr1: 77,720,555-81,146,091 LOC107984997, HMGB1P18, 38 more genes
    nsv4450384copy number variation1nstd102humannot provided GRCh37 chr1: 66,085,524-88,429,789 , GRCh38.p12 chr1: 65,619,841-87,964,106 DEPDC1, ERICH3-AS1, 264 more genes
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 LINC01776, IGSF21-AS1, 1853 more genes
    nsv4326932inversion1nstd166human GRCh37.p13 chr1: 35,173,490-93,458,530 , GRCh38.p12 chr1: 34,707,889-92,992,973 , ATP6V0B, 1069 more genes
    nsv3905989copy number variation1nstd102humanPathogenic GRCh37 chr1: 76,884,987-89,094,147 , NCBI36 chr1: 76,657,575-88,866,735 , GRCh38 chr1: 76,419,302-88,628,464 DNAJB4, SH3GLB1, 146 more genes
    nsv3901546copy number variation1nstd102humanPathogenic NCBI36 chr1: 59,057,865-86,336,882 , GRCh37 chr1: 59,285,277-86,564,294 , GRCh38 chr1: 58,819,605-86,098,611 ROR1, RNA5SP51, 333 more genes
    nsv3900997copy number variation1nstd102humanUncertain significance GRCh38 chr1: 77,777,821-79,122,486 , NCBI36 chr1: 78,016,094-79,360,759 , GRCh37 chr1: 78,243,506-79,588,171 LOC107984997, LOC652549, 24 more genes
    nsv3889910copy number variation1nstd102humanUncertain significance GRCh37 chr1: 74,848,936-80,324,850 , GRCh38.p12 chr1: 74,383,252-79,859,165 LOC100418965, SNORD45B, 72 more genes
    nsv3886551copy number variation1nstd102humanPathogenic GRCh37 chr1: 64,321,264-88,153,669 , GRCh38.p12 chr1: 63,855,593-87,687,986 RNU6-1102P, RAVER2, 291 more genes
    nsv3885743copy number variation1nstd102humanPathogenic GRCh37 chr1: 72,044,544-92,505,091 , GRCh38.p12 chr1: 71,578,861-92,039,534 ZNHIT6, CCN1, 257 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 , SNAP47, 4927 more genes
    nsv3884583copy number variation1nstd102humanPathogenic GRCh37 chr1: 61,351,024-79,583,933 , GRCh38.p12 chr1: 60,885,352-79,118,248 MIR7156, CHORDC1P5, 243 more genes
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