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Items: 1 to 20 of 16306

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137815delins1nstd102humanLikely pathogenic GRCh38 chr12: 21,580,459-21,580,531 , GRCh37 chr12: 21,733,393-21,733,465 GYS2
    nsv6137769copy number variation1nstd102humanBenign GRCh37 chr16: 30,760,362-30,760,412 , GRCh38 chr16: 30,749,041-30,749,091 PHKG2
    nsv6137707copy number variation1nstd102humanPathogenic GRCh37 chr16: 29,565,626-30,221,925 , GRCh38.p12 chr16: 29,554,305-30,210,604 TAOK2, SLC7A5P1, 44 more genes
    nsv6130430insertion1nstd186human GRCh37 chr17: 78,087,623-78,087,658 , GRCh38.p12 chr17: 80,113,824-80,113,859 GAA
    nsv6129956insertion1nstd186human GRCh37 chr19: 34,883,088-34,883,088 , GRCh38.p12 chr19|NT_187619.1: 41,430-41,430 , GRCh38.p12 chr19: 34,392,183-34,392,183 GPI
    nsv6126384insertion1nstd186human GRCh37 chr1: 8,929,303-8,929,311 , GRCh38.p12 chr1: 8,869,244-8,869,252 ENO1
    nsv6124847copy number variation1nstd186human GRCh37 chr21: 45,725,942-45,725,996 , GRCh38.p12 chr21: 44,306,059-44,306,113 PFKL
    nsv6112812copy number variation1nstd102humanPathogenic GRCh37 chr16: 29,675,050-30,200,008 , GRCh38.p12 chr16: 29,663,729-30,188,687 INO80E, QPRT, 33 more genes
    nsv6112806copy number variation1nstd102humanPathogenic GRCh37 chr16: 29,675,050-30,218,221 , GRCh38.p12 chr16: 29,663,729-30,206,900 YPEL3-DT, PAGR1, 38 more genes
    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
    nsv6112788copy number variation1nstd102humanPathogenic GRCh37 chr16: 29,615,859-30,199,454 , GRCh38.p12 chr16: 29,604,538-30,188,133 ALDOA, MVP, 36 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
    nsv6112778copy number variation1nstd102humanPathogenic GRCh37 chr20: 51,799,648-62,916,626 , GRCh38.p12 chr20: 53,183,109-64,285,273 LINC01742, MTCO2P1, 253 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
    nsv6112700copy number variation1nstd102humanPathogenic GRCh38 chr16: 46,385,317-61,223,349 , GRCh37.p13 chr16: 46,419,229-61,257,253 CPNE2, USB1, 275 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
    nsv6112670copy number variation1nstd102humanUncertain significance GRCh38 chrX: 77,957,506-78,280,549 , GRCh37.p13 chrX|NW_003871101.3: 514,768-752,267 , GRCh37.p13 chrX: 77,213,003-77,450,502 PGAM4, C4orf46P2, 6 more genes
    nsv5980454copy number variation1nstd102humanPathogenic GRCh37 chr16: 29,545,794-30,307,472 , GRCh38.p12 chr16: 29,534,473-30,296,151 LOC105371167, MIR3680-2, 46 more genes
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