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Items: 1 to 20 of 184

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096344copy number variation1nstd102humanPathogenic GRCh37 chr22: 26,859,863-26,864,609 , GRCh38.p12 chr22: 26,463,897-26,468,643 HPS4
    nsv7095934copy number variation1nstd102humanUncertain significance GRCh37 chr22: 26,142,492-27,026,451 , GRCh38.p12 chr22: 25,746,525-26,630,487 SRRD, TFIP11-DT, 18 more genes
    nsv7073094inversion1nstd229human GRCh38 chr22: 22,618,607-30,089,219 , GRCh37.p13 chr22: 22,961,077-30,485,208 BCRP1, POM121L10P, 237 more genes
    nsv7069705inversion1nstd229human GRCh38 chr22: 26,003,361-26,660,401 , GRCh37.p13 chr22: 26,399,327-27,056,365 HPS4, LOC646216, 18 more genes
    nsv7064717inversion1nstd229human GRCh38 chr22: 25,959,817-26,562,327 , GRCh37.p13 chr22: 26,355,783-26,958,293 TPST2, SEZ6L, 15 more genes
    nsv7063335inversion1nstd229human GRCh38 chr22: 26,479,695-26,490,343 , GRCh37.p13 chr22: 26,875,661-26,886,309 TFIP11, HPS4, 1 more genes
    nsv7031452copy number variation1nstd229human GRCh38 chr22: 26,437,001-26,459,700 , GRCh37.p13 chr22: 26,832,967-26,855,666 ASPHD2, HPS4
    nsv7030718copy number variation1nstd229human GRCh38 chr22: 26,470,749-26,477,707 , GRCh37.p13 chr22: 26,866,715-26,873,673 HPS4
    nsv7030021copy number variation1nstd229human GRCh38 chr22: 26,468,676-26,471,134 , GRCh37.p13 chr22: 26,864,642-26,867,100 HPS4
    nsv7028873copy number variation1nstd229human GRCh38 chr22: 22,977,123-28,064,565 , GRCh37.p13 chr22: 23,319,297-28,460,553 LOC100652871, VPREB3, 132 more genes
    nsv7028611copy number variation1nstd229human GRCh38 chr22: 26,468,032-26,468,167 , GRCh37.p13 chr22: 26,863,998-26,864,133 HPS4
    nsv7025198copy number variation1nstd229human GRCh38 chr22: 26,444,893-26,447,431 , GRCh37.p13 chr22: 26,840,859-26,843,397 ASPHD2, HPS4
    nsv7023382copy number variation1nstd229human GRCh38 chr22: 26,471,772-26,471,949 , GRCh37.p13 chr22: 26,867,738-26,867,915 HPS4
    nsv6637977copy number variation1nstd102humanPathogenic GRCh37 chr22: 26,614,429-29,847,680 , GRCh38.p12 chr22: 26,218,463-29,451,691 MIAT, LOC105372985, 65 more genes
    nsv6596913inversion1nstd223human GRCh38 chr22: 22,928,460-27,825,377 , GRCh37.p13 chr22: 23,270,636-28,221,365 LOC105372957, LOC105372980, 126 more genes
    nsv6596163inversion1nstd223human GRCh38 chr22: 26,475,391-26,475,888 , GRCh37.p13 chr22: 26,871,357-26,871,854 HPS4
    nsv6551280copy number variation1nstd223human GRCh38 chr22: 26,466,756-26,478,291 , GRCh37.p13 chr22: 26,862,722-26,874,257 HPS4
    nsv6311122copy number variation1nstd102humanUncertain significance GRCh37 chr22: 26,872,939-26,873,122 , GRCh38.p12 chr22: 26,476,973-26,477,156 HPS4
    nsv6252033mobile element insertion1nstd215human GRCh38 chr22: 26,463,436-26,463,436 , GRCh37.p13 chr22: 26,859,402-26,859,402 HPS4
    nsv6134585copy number variation1nstd213human GRCh37 chr22: 26,860,000-27,590,001 , GRCh38.p12 chr22: 26,464,034-27,194,039 CRYBA4, CRYBB1, 18 more genes
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