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Items: 1 to 20 of 352

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148056copy number variation1nstd102humanPathogenic GRCh37 chr2: 186,698,504-223,918,111 , GRCh38.p12 chr2: 185,833,777-223,053,393 DNAJB1P1, MTCO2P17, 580 more genes
    nsv7096119copy number variation2nstd102humanUncertain significance GRCh37 chr2: 189,839,216-192,012,929 , GRCh38.p12 chr2: 188,974,490-191,148,203 NAB1, ANKAR, 38 more genes
    nsv7056819inversion1nstd229human GRCh38 chr2: 190,496,612-190,496,662 , GRCh37.p13 chr2: 191,361,338-191,361,388 NEMP2, MFSD6
    nsv7054842inversion1nstd229human GRCh38 chr2: 190,054,200-190,773,498 , GRCh37.p13 chr2: 190,918,926-191,638,224 NAB1, NEMP2-DT, 7 more genes
    nsv7052602inversion1nstd229human GRCh38 chr2: 190,411,177-190,419,022 , GRCh37.p13 chr2: 191,275,903-191,283,748 MFSD6
    nsv6692992copy number variation1nstd229human GRCh38 chr2: 190,422,959-190,427,343 , GRCh37.p13 chr2: 191,287,685-191,292,069 MFSD6
    nsv6692529copy number variation1nstd229human GRCh38 chr2: 190,352,638-190,418,492 , GRCh37.p13 chr2: 191,217,364-191,283,218 MFSD6, INPP1
    nsv6692428copy number variation1nstd229human GRCh38 chr2: 190,417,801-190,440,000 , GRCh37.p13 chr2: 191,282,527-191,304,726 MFSD6
    nsv6689876copy number variation1nstd229human GRCh38 chr2: 190,433,157-190,435,507 , GRCh37.p13 chr2: 191,297,883-191,300,233 MFSD6
    nsv6678983copy number variation1nstd229human GRCh38 chr2: 190,430,829-190,430,877 , GRCh37.p13 chr2: 191,295,555-191,295,603 MFSD6
    nsv6678759copy number variation1nstd229human GRCh38 chr2: 190,420,173-190,420,208 , GRCh37.p13 chr2: 191,284,899-191,284,934 MFSD6
    nsv6637127copy number variation1nstd102humanPathogenic GRCh37 chr2: 189,909,904-209,468,383 , GRCh38.p12 chr2: 189,045,178-208,603,658 LOC100421409, LOC100507443, 310 more genes
    nsv6636571copy number variation1nstd102humanPathogenic GRCh37 chr2: 187,152,754-199,960,525 , GRCh38.p12 chr2: 186,288,027-199,095,802 GAPDHP59, OSGEPL1-AS1, 135 more genes
    nsv6550539inversion1nstd223human GRCh38 chr2: 190,434,030-190,434,442 , GRCh37.p13 chr2: 191,298,756-191,299,168 MFSD6
    nsv6550514inversion1nstd223human GRCh38 chr2: 190,487,329-190,488,124 , GRCh37.p13 chr2: 191,352,055-191,352,850 MFSD6, NEMP2
    nsv6545961inversion1nstd223human GRCh38 chr2: 190,483,117-190,483,565 , GRCh37.p13 chr2: 191,347,843-191,348,291 NEMP2, MFSD6
    nsv6541429inversion1nstd223human GRCh38 chr2: 190,487,235-190,487,931 , GRCh37.p13 chr2: 191,351,961-191,352,657 MFSD6, NEMP2
    nsv6352896copy number variation1nstd223human GRCh38 chr2: 190,492,526-190,493,820 , GRCh37.p13 chr2: 191,357,252-191,358,546 MFSD6, NEMP2
    nsv6343088copy number variation1nstd223human GRCh38 chr2: 190,445,173-190,447,990 , GRCh37.p13 chr2: 191,309,899-191,312,716 MFSD6
    nsv6337546copy number variation1nstd223human GRCh38 chr2: 190,474,753-190,483,597 , GRCh37.p13 chr2: 191,339,479-191,348,323 MFSD6, NEMP2
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