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Items: 1 to 20 of 25915

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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
    nsv6131737insertion1nstd186human GRCh37 chr14: 93,561,866-93,561,916 , GRCh38.p12 chr14: 93,095,521-93,095,571 , GRCh38.p12 chr14|NT_187601.1: 210,083-210,133 ITPK1
    nsv6131091mobile element insertion1nstd186human GRCh37 chr14: 93,572,577-93,572,621 , GRCh38.p12 chr14|NT_187601.1: 220,794-220,838 , GRCh38.p12 chr14: 93,106,232-93,106,276 ITPK1
    nsv6130884insertion1nstd186human GRCh37 chr21: 10,697,897-44,966,043 , GRCh38.p12 chr21: 12,965,809-43,546,162 , APP, 533 more genes
    nsv6130648insertion1nstd186human GRCh37 chr18: 12,029,271-12,029,271 , GRCh38.p12 chr18: 12,029,272-12,029,272 IMPA2
    nsv6129524insertion1nstd186human GRCh37 chr13: 25,838,909-25,838,946 , GRCh38.p12 chr13: 25,264,771-25,264,808 MTMR6
    nsv6123103copy number variation1nstd186human GRCh37 chr14: 74,545,329-74,546,010 , GRCh38.p12 chr14: 74,078,626-74,079,307 BBOF1, ALDH6A1
    nsv6117672copy number variation1nstd186human GRCh37 chrX: 149,751,737-149,752,409 , GRCh38.p12 chrX: 150,583,277-150,583,949 MTM1
    nsv6117042mobile element insertion1nstd186human GRCh37 chr20: 8,816,491-8,816,491 , GRCh38.p12 chr20: 8,835,844-8,835,844 PLCB1
    nsv6116909mobile element insertion1nstd186human GRCh37 chr20: 8,521,304-8,521,355 , GRCh38.p12 chr20: 8,540,657-8,540,708 PLCB1
    nsv6116318mobile element insertion1nstd186human GRCh37 chr22: 30,303,443-30,303,494 , GRCh38.p12 chr22: 29,907,454-29,907,505 MTMR3
    nsv6114977mobile element insertion1nstd186human GRCh37 chr20: 8,435,668-8,435,668 , GRCh38.p12 chr20: 8,455,021-8,455,021 PLCB1
    nsv6113631mobile element insertion1nstd186human GRCh37 chr4: 143,258,300-143,258,300 , GRCh38.p12 chr4: 142,337,147-142,337,147 INPP4B
    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
    nsv6112802copy number variation1nstd102humanPathogenic GRCh37 chr18: 23,626,739-78,014,976 , GRCh38.p12 chr18: 26,046,775-80,257,093 RPL9P31, LINC02582, 595 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
    nsv6112794copy number variation1nstd102humanPathogenic GRCh37 chr22: 50,099,570-51,187,115 , GRCh38.p12 chr22: 49,705,922-50,748,687 SCO2, CIMAP1B, 50 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
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