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Items: 1 to 20 of 8079

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137736copy number variation1nstd102humanPathogenic GRCh37 chrX: 153,263,517-155,260,560 , GRCh38.p12 chrX: 153,998,066-156,030,895 H2AB3, GDI1, 83 more genes
    nsv6137672copy number variation1nstd102humannot provided GRCh38 chr2: 124,348,648-129,410,245 , GRCh37.p13 chr2: 125,106,225-130,167,818 LOC105373603, MYO7B, 59 more genes
    nsv6131328mobile element insertion1nstd186human GRCh37 chr1: 169,524,859-169,524,871 , GRCh38.p12 chr1: 169,555,621-169,555,633 F5
    nsv6130429insertion1nstd186human GRCh37 chr20: 33,801,730-33,801,781 , GRCh38.p12 chr20: 35,213,927-35,213,978 PROCR, MMP24-AS1-EDEM2
    nsv6129372insertion1nstd186human GRCh37 chr13: 113,760,939-113,760,958 , GRCh38.p12 chr13: 113,106,625-113,106,644 F7
    nsv6123258copy number variation1nstd186human GRCh37 chr13: 113,796,709-113,797,090 , GRCh38.p12 chr13: 113,142,395-113,142,776 F10
    nsv6112800copy number variation1nstd102humanPathogenic GRCh37 chr22: 18,889,977-21,463,189 , GRCh38.p12 chr22: 18,339,130-21,108,900 MIR4761, TUBA3FP, 124 more genes
    nsv6112793copy number variation1nstd102humanPathogenic GRCh37 chr22: 18,889,693-21,465,485 , GRCh38.p12 chr22: 18,339,130-21,111,196 THAP7, LOC100129262, 125 more genes
    nsv6112789copy number variation1nstd102humanPathogenic GRCh37 chr22: 20,730,996-21,465,342 , GRCh38.p12 chr22: 20,376,706-21,111,053 IGLL4P, CRKL, 39 more genes
    nsv6112781copy number variation1nstd102humanPathogenic GRCh37 chr22: 18,841,374-21,465,101 , GRCh38.p12 chr22: 18,339,130-21,110,812 SEPTIN5, RNU6-225P, 125 more genes
    nsv6112779copy number variation1nstd102humanPathogenic GRCh37 chr22: 18,889,571-21,464,697 , GRCh38.p12 chr22: 18,339,130-21,110,408 PRODH, MIR3618, 124 more genes
    nsv6112763copy number variation1nstd102humanPathogenic GRCh37 chr12: 189,145-7,730,395 , GRCh38.p12 chr12: 79,979-7,577,799 GALNT8, LINC02371, 197 more genes
    nsv6112757copy number variation1nstd102humanPathogenic GRCh37 chr2: 220,056,891-227,164,817 , GRCh38.p12 chr2: 219,192,169-226,300,101 DES, SPEG, 100 more genes
    nsv6112754copy number variation1nstd102humanPathogenic GRCh37 chr4: 131,303,317-168,722,402 , GRCh38.p12 chr4: 130,382,162-167,801,251 MIR3139, CLGN, 407 more genes
    nsv6112714copy number variation1nstd102humanPathogenic GRCh37 chr3: 127,927,712-136,889,323 , GRCh38.p12 chr3: 128,208,869-137,170,481 RNU6-789P, FAM86HP, 169 more genes
    nsv6112709copy number variation1nstd102humanPathogenic GRCh37 chr3: 123,000,000-129,700,000 , GRCh38.p12 chr3: 123,281,153-129,981,157 OR7E97P, MARK3P3, 160 more genes
    nsv6112690copy number variation1nstd102humanPathogenic GRCh37 chrX: 60,000-155,234,966 , GRCh38.p12 chrX: 10,001-156,005,301 LOC105373176, ZFX-AS1, 2151 more genes
    nsv5980456copy number variation1nstd102humanUncertain significance GRCh37 chr22: 20,737,912-21,465,659 , GRCh38.p12 chr22: 20,383,622-21,111,370 KRT18P5, SLC9A3P2, 39 more genes
    nsv5980452copy number variation1nstd102humanPathogenic GRCh37 chr22: 18,889,969-21,462,658 , GRCh38.p12 chr22: 18,339,130-21,108,369 LINC01637, BCRP7, 124 more genes
    nsv5979971insertion1nstd209human GRCh38 chr12: 5,998,493-5,998,493 , GRCh37.p13 chr12: 6,107,659-6,107,659 VWF
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