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Items: 1 to 20 of 656

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6129100insertion1nstd186human GRCh37 chrX: 22,243,110-22,243,115 , GRCh38.p12 chrX: 22,224,993-22,224,998 PHEX, PTCHD1-AS
    nsv6112690copy number variation1nstd102humanPathogenic GRCh37 chrX: 60,000-155,234,966 , GRCh38.p12 chrX: 10,001-156,005,301 LOC105373176, ZFX-AS1, 2151 more genes
    nsv5963233insertion1nstd209human GRCh38 chrX: 22,232,596-22,232,596 , GRCh37.p13 chrX: 22,250,713-22,250,713 PHEX, PTCHD1-AS
    nsv5878305copy number variation1nstd209human GRCh38 chrX: 22,228,549-22,228,635 , GRCh37.p13 chrX: 22,246,666-22,246,752 PHEX, PTCHD1-AS
    nsv5726469mobile element insertion1nstd211human GRCh38 chrX: 22,193,554-22,193,554 , GRCh37.p13 chrX: 22,211,671-22,211,671 PHEX, PTCHD1-AS
    nsv5720705mobile element insertion2nstd211human GRCh38 chrX: 22,154,109-22,154,109 , GRCh37.p13 chrX: 22,172,226-22,172,226 PHEX
    nsv5674196copy number variation1nstd102humanPathogenic GRCh37 chrX: 22,231,021-22,245,728 , GRCh38.p12 chrX: 22,212,904-22,227,611 PTCHD1-AS, PHEX
    nsv5674195copy number variation1nstd102humanLikely pathogenic GRCh37 chrX: 22,112,101-22,112,217 , GRCh38.p12 chrX: 22,093,983-22,094,099 PHEX
    nsv5674194copy number variation1nstd102humanPathogenic GRCh37 chrX: 22,065,168-22,132,704 , GRCh38.p12 chrX: 22,047,050-22,114,586 PHEX
    nsv5674089copy number variation1nstd102humanLikely pathogenic GRCh37 chrX: 22,108,537-22,108,625 , GRCh38.p12 chrX: 22,090,419-22,090,507 PHEX
    nsv5674088copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chrX: 22,108,527-22,108,635 , GRCh38.p12 chrX: 22,090,409-22,090,517 PHEX
    nsv5674087copy number variation1nstd102humanPathogenic GRCh37 chrX: 22,094,506-22,108,615 , GRCh38.p12 chrX: 22,076,388-22,090,497 PHEX
    nsv5673987copy number variation1nstd102humanLikely pathogenic GRCh37 chrX: 22,263,450-22,263,526 , GRCh38.p12 chrX: 22,245,333-22,245,409 PHEX, PTCHD1-AS
    nsv5673986copy number variation1nstd102humanPathogenic GRCh37 chrX: 22,244,540-22,244,645 , GRCh38.p12 chrX: 22,226,423-22,226,528 PTCHD1-AS, PHEX
    nsv5673985copy number variation1nstd102humanPathogenic GRCh37 chrX: 22,237,133-22,239,880 , GRCh38.p12 chrX: 22,219,016-22,221,763 PHEX, PTCHD1-AS
    nsv5673984copy number variation1nstd102humanPathogenic GRCh37 chrX: 22,094,486-22,151,761 , GRCh38.p12 chrX: 22,076,368-22,133,644 PHEX
    nsv5673915copy number variation1nstd102humanPathogenic GRCh37 chrX: 22,237,153-22,245,728 , GRCh38.p12 chrX: 22,219,036-22,227,611 PTCHD1-AS, PHEX
    nsv5673914copy number variation1nstd102humanPathogenic GRCh37 chrX: 22,208,541-22,208,639 , GRCh38.p12 chrX: 22,190,424-22,190,522 PHEX
    nsv5673913copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chrX: 22,186,409-22,266,301 , GRCh38.p12 chrX: 22,168,292-22,248,184 PHEX, PTCHD1-AS, 1 more genes
    nsv5673912copy number variation1nstd102humanPathogenic GRCh37 chrX: 21,958,943-22,208,619 , GRCh38.p12 chrX: 21,940,825-22,190,502 SMS, PHEX, 1 more genes
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