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Items: 1 to 20 of 423

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7094825copy number variation1nstd102humanPathogenic GRCh37 chr16: 2,135,211-2,142,622 , GRCh38.p12 chr16: 2,085,210-2,092,621 TSC2, PKD1, 2 more genes
    nsv7094773copy number variation1nstd102humanPathogenic GRCh37 chr16: 2,137,518-2,138,586 , GRCh38.p12 chr16: 2,087,517-2,088,585 PKD1, MIR1225, 1 more genes
    nsv7094771copy number variation1nstd102humanPathogenic GRCh37 chr16: 2,125,780-2,152,787 , GRCh38.p12 chr16: 2,075,779-2,102,786 PKD1, MIR1225, 2 more genes
    nsv7094770copy number variation1nstd102humanUncertain significance GRCh37 chr16: 2,124,191-2,143,097 , GRCh38.p12 chr16: 2,074,190-2,093,096 MIR1225, PKD1, 2 more genes
    nsv7094768copy number variation1nstd102humanUncertain significance GRCh37 chr16: 2,098,611-2,138,617 , GRCh38.p12 chr16: 2,048,610-2,088,616 PKD1, MIR1225, 1 more genes
    nsv7094763copy number variation1nstd102humanPathogenic GRCh37 chr16: 2,034,220-2,152,787 , GRCh38.p12 chr16: 1,984,219-2,102,786 NHERF2, PKD1-AS1, 10 more genes
    nsv7094666copy number variation3nstd102humanUncertain significance GRCh37 chr16: 256,302-4,852,572 , GRCh38.p12 chr16: 206,303-4,802,571 DNAAF8, TMEM204, 282 more genes
    nsv7094570copy number variation1nstd102humanUncertain significance GRCh37 chr16: 2,114,253-2,138,611 , GRCh38.p12 chr16: 2,064,252-2,088,610 TSC2, MIR1225, 1 more genes
    nsv7094569copy number variation1nstd102humanPathogenic GRCh37 chr16: 2,106,177-2,142,622 , GRCh38.p12 chr16: 2,056,176-2,092,621 PKD1, MIR1225, 2 more genes
    nsv6971016copy number variation1nstd229human GRCh38 chr16: 1,949,201-2,138,200 , GRCh37.p13 chr16: 1,999,202-2,188,201 MIR4516, NTHL1, 22 more genes
    nsv6961258copy number variation1nstd229human GRCh38 chr16: 1,796,554-2,140,440 , GRCh37.p13 chr16: 1,846,555-2,190,441 NTHL1, MSRB1, 29 more genes
    nsv6959164copy number variation1nstd229human GRCh38 chr16: 1,882,476-2,224,508 , GRCh37.p13 chr16: 1,932,477-2,274,509 SNORD60, NTHL1, 35 more genes
    nsv6958935copy number variation1nstd229human GRCh38 chr16: 1,975,501-2,237,700 , GRCh37.p13 chr16: 2,025,502-2,287,701 BRICD5, MLST8, 25 more genes
    nsv6638000copy number variation1nstd102humanLikely pathogenic GRCh37 chr16: 2,106,895-2,227,470 , GRCh38.p12 chr16: 2,056,894-2,177,469 PKD1, TSC2, 10 more genes
    nsv6637964copy number variation1nstd102humanPathogenic GRCh37 chr16: 2,021,144-2,146,432 , GRCh38.p12 chr16: 1,971,143-2,096,431 NTHL1, SYNGR3, 11 more genes
    nsv6637664copy number variation1nstd102humanPathogenic GRCh37 chr16: 2,021,144-2,266,791 , GRCh38.p12 chr16: 1,971,143-2,216,790 SNHG19, MIR6511B1, 22 more genes
    nsv6637330copy number variation1nstd102humanUncertain significance GRCh37 chr16: 1,942,430-2,653,144 , GRCh38.p12 chr16: 1,892,429-2,603,143 SNHG19, SNHG9, 58 more genes
    nsv6634427copy number variation1nstd102humanPathogenic GRCh37 chr16: 111,043-6,627,459 , GRCh38.p12 chr16: 61,045-6,577,458 HBA1, ANTKMT, 312 more genes
    nsv6315059copy number variation1nstd102humanPathogenic GRCh38 chr16: 1,903,155-2,093,402 , GRCh37.p13 chr16: 1,953,156-2,143,403 NPW, HS3ST6, 21 more genes
    nsv6315012copy number variation1nstd102humanPathogenic GRCh38 chr16: 2,066,081-2,241,220 , GRCh37.p13 chr16: 2,116,082-2,291,221 CASKIN1, PKD1, 16 more genes
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