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Items: 1 to 20 of 115

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099215copy number variation1nstd231human GRCh38.p12 chr1: 84,991,383-97,594,649 , GRCh37 chr1: 85,457,066-98,060,205 ABCA4, BRDT, 220 more genes
    nsv6657447copy number variation1nstd229human GRCh38 chr1: 93,594,412-93,597,503 , GRCh37.p13 chr1: 94,059,969-94,063,060 BCAR3-AS1, BCAR3
    nsv6657378copy number variation1nstd229human GRCh38 chr1: 93,557,665-93,595,971 , GRCh37.p13 chr1: 94,023,222-94,061,528 BCAR3-AS1, FNBP1L, 1 more genes
    nsv6656661copy number variation1nstd229human GRCh38 chr1: 93,597,428-93,624,306 , GRCh37.p13 chr1: 94,062,985-94,089,863 BCAR3-AS1, BCAR3
    nsv6656660copy number variation1nstd229human GRCh38 chr1: 93,592,590-93,597,915 , GRCh37.p13 chr1: 94,058,147-94,063,472 BCAR3, BCAR3-AS1
    nsv6133888copy number variation1nstd213human GRCh37 chr1: 93,020,000-94,900,001 , GRCh38.p12 chr1: 92,554,443-94,434,445 ABCA4, DR1, 47 more genes
    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
    nsv4745469copy number variation1nstd199human GRCh37 chr1: 86,005,697-146,486,085 , GRCh38.p12 chr1: 85,540,014-149,528,945 , TAF13, 920 more genes
    nsv4674663copy number variation1nstd102humanUncertain significance GRCh37 chr1: 93,863,518-96,108,930 , GRCh38.p12 chr1: 93,397,961-95,643,374 CNN3, SLC44A3-AS1, 48 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
    nsv3898327copy number variation1nstd102humanPathogenic GRCh38 chr1: 83,457,325-104,273,917 , GRCh37 chr1: 83,923,008-104,816,539 , NCBI36 chr1: 83,695,596-104,618,062 LINC01773, LOC107985095, 322 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 , SNAP47, 4927 more genes
    nsv3884558copy number variation1nstd102humanPathogenic GRCh37 chr1: 94,054,724-111,671,707 , GRCh38.p12 chr1: 93,589,167-111,129,085 SLC25A24, LOC100271656, 265 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
    nsv3882464copy number variation1nstd102humanPathogenic GRCh37 chr1: 93,837,992-121,343,783 , GRCh38.p12 chr1: 93,372,435-121,601,985 LINC02607, RNVU1-19, 513 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 , MARK1, 4930 more genes
    nsv3873293copy number variation1nstd102humanUncertain significance GRCh37 chr1: 93,986,681-94,575,458 , GRCh38.p12 chr1: 93,521,124-94,109,902 MTND3P21, CHCHD2P5, 14 more genes
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