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Items: 1 to 20 of 186

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4682254copy number variation1nstd102humanPathogenic GRCh37 chrX: 77,238,734-77,312,616 , GRCh38.p12 chrX: 77,983,238-78,057,119 ATP7A
    nsv3896221copy number variation1nstd102humanPathogenic GRCh38 chrX: 77,995,123-78,039,221 , NCBI36 chrX: 77,137,275-77,181,375 , GRCh37 chrX: 77,250,619-77,294,719 ATP7A
    nsv5674217copy number variation1nstd102humanPathogenic GRCh37 chrX: 77,227,108-77,258,743 , GRCh38.p12 chrX: 77,971,611-78,003,246 ATP7A
    nsv6313468copy number variation1nstd102humanPathogenic GRCh37 chrX: 77,264,993-77,268,389 , GRCh38.p12 chrX: 78,009,496-78,012,892 ATP7A
    nsv6313381copy number variation1nstd102humanPathogenic GRCh37 chrX: 77,275,721-77,279,056 , GRCh38.p12 chrX: 78,020,224-78,023,559 ATP7A
    nsv6313467copy number variation1nstd102humanPathogenic GRCh37 chrX: 77,243,718-77,245,474 , GRCh38.p12 chrX: 77,988,222-77,989,978 ATP7A
    nsv5674170copy number variation1nstd102humanPathogenic GRCh37 chrX: 77,270,139-77,271,398 , GRCh38.p12 chrX: 78,014,642-78,015,901 ATP7A
    nsv7098550copy number variation1nstd102humanPathogenic GRCh37 chrX: 77,300,947-77,302,067 , GRCh38.p12 chrX: 78,045,450-78,046,570 ATP7A
    nsv4348716copy number variation1nstd102humanPathogenic GRCh37 chrX: 77,244,108-77,244,998 , GRCh38.p12 chrX: 77,988,612-77,989,502 ATP7A
    nsv3917448copy number variation1nstd102humanPathogenic GRCh37 chrX: 77,271,231-77,271,398 , GRCh38.p12 chrX: 78,015,734-78,015,901 ATP7A
    nsv6313380copy number variation1nstd102humanPathogenic GRCh37 chrX: 77,227,108-77,227,268 , GRCh38.p12 chrX: 77,971,611-77,971,771 ATP7A
    nsv7098571copy number variation1nstd102humanPathogenic GRCh37 chrX: 77,266,653-77,271,398 , GRCh38.p12 chrX: 78,011,156-78,015,901 ATP7A
    nsv3921920delins1nstd102humanPathogenic GRCh37 chrX: 77,286,938-77,286,942 , GRCh38 chrX: 78,031,440-78,031,444 ATP7A
    nsv6315073copy number variation1nstd102humanLikely pathogenic GRCh37 chrX: 77,284,942-77,294,333 , GRCh38.p12 chrX: 78,029,445-78,038,835 ATP7A
    nsv4681210copy number variation1nstd102humanUncertain significance GRCh37 chrX: 77,276,422-77,276,596 , GRCh38.p12 chrX: 78,020,925-78,021,099 ATP7A
    nsv4681363copy number variation1nstd102humanUncertain significance GRCh37 chrX: 77,227,108-77,305,902 , GRCh38.p12 chrX: 77,971,611-78,050,405 ATP7A
    nsv6313351copy number variation1nstd102humanUncertain significance GRCh37 chrX: 77,227,129-77,302,077 , GRCh38.p12 chrX: 77,971,632-78,046,580 ATP7A
    nsv4681432copy number variation1nstd102humanUncertain significance GRCh37 chrX: 77,243,738-77,302,067 , GRCh38.p12 chrX: 77,988,242-78,046,570 ATP7A
    nsv7098334copy number variation1nstd102humanUncertain significance GRCh37 chrX: 77,270,149-77,305,902 , GRCh38.p12 chrX: 78,014,652-78,050,405 ATP7A
    nsv6313353copy number variation1nstd102humanUncertain significance GRCh37 chrX: 77,275,731-77,302,067 , GRCh38.p12 chrX: 78,020,234-78,046,570 ATP7A
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