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Items: 1 to 20 of 134

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4906251copy number variation1nstd200human GRCh38 chr1: 44,779,279-44,779,402 , GRCh37.p13 chr1: 45,244,951-45,245,074 RPS8, RPS15AP11
    nsv4773326copy number variation1nstd200human GRCh37 chr1: 45,242,015-45,242,073 , GRCh38.p12 chr1: 44,776,343-44,776,401 SNORD38A, RPS8, 3 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
    nsv4679182copy number variation1nstd189human GRCh37.p13 chr1: 44,966,524-45,765,102 , GRCh38.p12 chr1: 44,500,852-45,299,430 PLK3, RPS8, 32 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
    nsv4050814copy number variation1nstd166human GRCh37.p13 chr1: 44,473,602-45,303,007 , GRCh38.p12 chr1: 44,007,930-44,837,335 , LOC107984952, 38 more genes
    nsv4047742copy number variation1nstd166human GRCh37.p13 chr1: 45,242,016-45,242,073 , GRCh38.p12 chr1: 44,776,344-44,776,401 SNORD38B, SNORD55, 3 more genes
    nsv3904737copy number variation1nstd102humanUncertain significance GRCh38 chr1: 44,713,837-45,282,899 , NCBI36 chr1: 44,952,096-45,521,158 , GRCh37 chr1: 45,179,509-45,748,571 LOC105378690, RPS15AP11, 26 more genes
    nsv3903595copy number variation1nstd102humanUncertain significance GRCh38 chr1: 43,896,056-44,867,736 , NCBI36 chr1: 44,134,315-45,105,995 , GRCh37 chr1: 44,361,728-45,333,408 SNORD145, DMAP1, 47 more genes
    nsv3889018copy number variation1nstd102humanBenign GRCh37 chr1: 45,237,119-45,287,094 , GRCh38.p12 chr1: 44,771,447-44,821,422 LOC107984952, SNORD38B, 11 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 , SNAP47, 4927 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 , RNU1-153P, 4887 more genes
    nsv3878135copy number variation1nstd102humanUncertain significance GRCh37 chr1: 33,241,563-46,663,513 , GRCh38.p12 chr1: 32,775,962-46,197,841 LINC02786, LOC105378678, 365 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 , MARK1, 4930 more genes
    nsv3228745insertion1nstd152human GRCh38 chr1: 44,774,769-44,775,580 , GRCh37.p13 chr1: 45,240,441-45,241,252 RPS8, SNORD55, 1 more genes
    nsv3200563copy number variation1nstd152human GRCh38 chr1: 44,752,053-44,786,677 , GRCh37.p13 chr1: 45,217,725-45,252,349 RPS8, KIF2C, 7 more genes
    nsv3167791inversion1nstd158human GRCh37 chr1: 42,414,066-227,813,903 , GRCh38.p12 chr1: 41,948,395-227,626,202 , ABCA4, 3418 more genes
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