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Items: 1 to 20 of 301

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099254copy number variation1nstd231human GRCh38.p12 chr1: 182,376,401-191,898,122 , GRCh37 chr1: 182,345,536-191,867,252 DHX9, GLUL, 99 more genes
    nsv6645978copy number variation1nstd229human GRCh38 chr1: 182,909,387-182,912,787 , GRCh37.p13 chr1: 182,878,522-182,881,922 SHCBP1L
    nsv6645977copy number variation1nstd229human GRCh38 chr1: 182,908,236-182,908,290 , GRCh37.p13 chr1: 182,877,371-182,877,425 SHCBP1L
    nsv6645976copy number variation1nstd229human GRCh38 chr1: 182,904,633-182,904,836 , GRCh37.p13 chr1: 182,873,768-182,873,971 SHCBP1L
    nsv6645907copy number variation1nstd229human GRCh38 chr1: 182,920,801-182,926,300 , GRCh37.p13 chr1: 182,889,936-182,895,435 SHCBP1L
    nsv6645534copy number variation1nstd229human GRCh38 chr1: 182,946,007-182,946,137 , GRCh37.p13 chr1: 182,915,142-182,915,272 SHCBP1L
    nsv6645533copy number variation1nstd229human GRCh38 chr1: 182,911,683-182,914,468 , GRCh37.p13 chr1: 182,880,818-182,883,603 SHCBP1L
    nsv6645532copy number variation1nstd229human GRCh38 chr1: 182,896,698-182,904,091 , GRCh37.p13 chr1: 182,865,833-182,873,226 SHCBP1L
    nsv6645530copy number variation1nstd229human GRCh38 chr1: 182,888,386-182,905,537 , GRCh37.p13 chr1: 182,857,521-182,874,672 SHCBP1L, DHX9
    nsv6645529copy number variation1nstd229human GRCh38 chr1: 182,852,441-182,970,560 , GRCh37.p13 chr1: 182,821,576-182,939,695 HMGN1P4, LOC100271717, 4 more genes
    nsv6637124copy number variation1nstd102humanPathogenic GRCh37 chr1: 179,727,182-192,260,142 , GRCh38.p12 chr1: 179,758,047-192,291,012 LOC101928933, KIAA1614-AS1, 148 more genes
    nsv6636965copy number variation1nstd102humanPathogenic GRCh37 chr1: 181,453,460-213,107,248 , GRCh38.p12 chr1: 181,484,324-212,933,906 PRELP, SYT14, 527 more genes
    nsv6554038inversion1nstd223human GRCh38 chr1: 182,943,603-182,943,836 , GRCh37.p13 chr1: 182,912,738-182,912,971 SHCBP1L, RNA5SP71
    nsv6553791inversion1nstd223human GRCh38 chr1: 182,900,594-182,900,883 , GRCh37.p13 chr1: 182,869,729-182,870,018 SHCBP1L
    nsv6552585inversion1nstd223human GRCh38 chr1: 182,944,362-182,944,978 , GRCh37.p13 chr1: 182,913,497-182,914,113 SHCBP1L, RNA5SP71
    nsv6545618inversion1nstd223human GRCh38 chr1: 182,899,135-182,901,378 , GRCh37.p13 chr1: 182,868,270-182,870,513 SHCBP1L
    nsv6545188inversion1nstd223human GRCh38 chr1: 182,943,326-182,943,974 , GRCh37.p13 chr1: 182,912,461-182,913,109 SHCBP1L, RNA5SP71
    nsv6538365inversion1nstd223human GRCh38 chr1: 178,815,320-184,820,865 , GRCh37.p13 chr1: 178,784,455-184,789,999 NPHS2, COLGALT2, 111 more genes
    nsv6537435inversion1nstd223human GRCh38 chr1: 182,906,861-182,907,211 , GRCh37.p13 chr1: 182,875,996-182,876,346 SHCBP1L
    nsv6537422inversion1nstd223human GRCh38 chr1: 182,936,287-182,936,890 , GRCh37.p13 chr1: 182,905,422-182,906,025 SHCBP1L
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