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Items: 1 to 20 of 116

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4903371copy number variation1nstd200human GRCh38 chr1: 37,745,813-38,046,236 , GRCh37.p13 chr1: 38,211,485-38,511,908 FHL3, YRDC, 15 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
    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
    nsv3901163copy number variation1nstd102humanPathogenic GRCh37 chr1: 24,707,696-41,886,350 , GRCh38 chr1: 24,381,206-41,401,517 , NCBI36 chr1: 24,580,283-41,658,937 TMEM222, ZBTB8OS, 453 more genes
    nsv3886123copy number variation1nstd102humanLikely benign GRCh37 chr1: 37,766,562-38,727,114 , GRCh38.p12 chr1: 37,300,961-38,261,442 FHL3, DNALI1, 36 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
    nsv3120094copy number variation1nstd151human GRCh37 chr1: 38,478,472-38,488,486 , GRCh38.p12 chr1: 38,012,800-38,022,814 UTP11
    nsv2759339copy number variation1nstd130human GRCh37 chr1: 38,457,848-38,477,402 , GRCh38.p12 chr1: 37,992,176-38,011,730 UTP11, FHL3
    nsv1490357short tandem repeat4nstd128human GRCh37 chr1: 38,488,507-38,488,519 , GRCh38.p12 chr1: 38,022,835-38,022,847 UTP11
    nsv1490356short tandem repeat4nstd128human GRCh37 chr1: 38,486,598-38,486,611 , GRCh38.p12 chr1: 38,020,926-38,020,939 UTP11
    nsv1490355short tandem repeat3nstd128human GRCh37 chr1: 38,483,744-38,483,760 , GRCh38.p12 chr1: 38,018,072-38,018,088 UTP11
    nsv1429972short tandem repeat6nstd128human GRCh37 chr1: 38,485,105-38,485,128 , GRCh38.p12 chr1: 38,019,433-38,019,456 UTP11
    nsv1429970short tandem repeat5nstd128human GRCh37 chr1: 38,483,297-38,483,309 , GRCh38.p12 chr1: 38,017,625-38,017,637 UTP11
    nsv1429969short tandem repeat2nstd128human GRCh37 chr1: 38,480,692-38,480,712 , GRCh38.p12 chr1: 38,015,020-38,015,040 UTP11
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