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Items: 1 to 20 of 130

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099204copy number variation1nstd231human GRCh38.p12 chr1: 51,433,462-53,162,521 , GRCh37 chr1: 51,899,134-53,628,193 EPS15, GPX7, 53 more genes
    nsv7052650inversion1nstd229human GRCh38 chr1: 47,584,744-54,395,558 , GRCh37.p13 chr1: 48,050,416-54,861,231 ANAPC10P1, SPATA6, 137 more genes
    nsv7044363inversion1nstd229human GRCh38 chr1: 52,322,448-52,410,648 , GRCh37.p13 chr1: 52,788,120-52,876,320 ZFYVE9, PLA2G12AP1, 3 more genes
    nsv6650890copy number variation1nstd229human GRCh38 chr1: 52,357,896-52,358,058 , GRCh37.p13 chr1: 52,823,568-52,823,730 CC2D1B
    nsv6638064copy number variation1nstd102humanassociation GRCh38 chr1: 48,666,286-52,808,894 , GRCh37.p13 chr1: 49,131,958-53,274,566 LOC105378710, RNU6-1026P, 80 more genes
    nsv6253262mobile element insertion1nstd215human GRCh38 chr1: 52,348,456-52,348,456 , GRCh37.p13 chr1: 52,814,128-52,814,128 ZFYVE9, CC2D1B
    nsv6133775copy number variation1nstd213human GRCh37 chr1: 50,680,000-53,460,001 , GRCh38.p12 chr1: 50,214,328-52,994,329 CDKN2C, EPS15, 76 more genes
    nsv5381135copy number variation1nstd102humanPathogenic GRCh37 chr1: 51,941,877-56,688,514 , GRCh38.p12 chr1: 51,476,205-56,222,842 LRP8-DT, LRRC42, 122 more genes
    nsv5065003mobile element insertion1nstd203human GRCh38 chr1: 52,355,180-52,355,192 , GRCh37.p13 chr1: 52,820,852-52,820,864 CC2D1B
    nsv4890170copy number variation1nstd200human GRCh38 chr1: 52,348,324-52,350,159 , GRCh37.p13 chr1: 52,813,996-52,815,831 CC2D1B, ZFYVE9
    nsv4890169copy number variation1nstd200human GRCh38 chr1: 52,342,627-52,350,761 , GRCh37.p13 chr1: 52,808,299-52,816,433 CC2D1B, ZFYVE9
    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
    nsv4461553mobile element insertion1nstd166human GRCh37.p13 chr1: 52,820,852-52,820,852 , GRCh38.p12 chr1: 52,355,180-52,355,180 CC2D1B
    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
    nsv4044945copy number variation1nstd166human GRCh37.p13 chr1: 52,813,265-52,813,341 , GRCh38.p12 chr1: 52,347,593-52,347,669 CC2D1B, ZFYVE9
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 , SNAP47, 4927 more genes
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