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Items: 1 to 20 of 285

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099255copy number variation1nstd231human GRCh38.p12 chr1: 192,358,641-201,911,882 , GRCh37 chr1: 192,327,771-201,881,010 CACNA1S, CSRP1, 120 more genes
    nsv7093373copy number variation1nstd102humanUncertain significance GRCh37 chr1: 196,670,448-197,898,389 , GRCh38.p12 chr1: 196,701,318-197,929,259 LHX9, ASPM, 19 more genes
    nsv7057922inversion1nstd229human GRCh38 chr1: 197,827,782-198,227,407 , GRCh37.p13 chr1: 197,796,912-198,196,537 PRR13P1, C1orf53, 2 more genes
    nsv7051460inversion1nstd229human GRCh38 chr1: 197,827,780-198,227,409 , GRCh37.p13 chr1: 197,796,910-198,196,539 LHX9, NEK7, 2 more genes
    nsv7046755inversion1nstd229human GRCh38 chr1: 197,153,978-198,848,199 , GRCh37.p13 chr1: 197,123,108-198,817,328 FAM204BP, RPL24P5, 15 more genes
    nsv6669651copy number variation1nstd229human GRCh38 chr1: 197,852,608-197,914,971 , GRCh37.p13 chr1: 197,821,738-197,884,101 C1orf53, LHX9
    nsv6666569copy number variation1nstd229human GRCh38 chr1: 197,924,888-197,925,184 , GRCh37.p13 chr1: 197,894,018-197,894,314 LHX9
    nsv6658730copy number variation1nstd229human GRCh38 chr1: 197,903,858-197,911,349 , GRCh37.p13 chr1: 197,872,988-197,880,479 LHX9, C1orf53
    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
    nsv6636659copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 189,633,885-199,854,163 , GRCh38.p12 chr1: 189,664,755-199,885,035 F13B, CFH, 88 more genes
    nsv6636303copy number variation1nstd102humanPathogenic GRCh37 chr1: 193,011,753-199,882,947 , GRCh38.p12 chr1: 193,042,623-199,913,819 RPS2P9, ASPM, 60 more genes
    nsv6634372copy number variation1nstd102humanPathogenic GRCh37 chr1: 197,867,914-249,224,684 , GRCh38.p12 chr1: 197,898,784-248,930,485 LOC105373279, YBX1P9, 1036 more genes
    nsv6549148inversion1nstd223human GRCh38 chr1: 197,405,080-199,905,342 , GRCh37.p13 chr1: 197,374,210-199,874,470 FAM204BP, RPL23AP16, 25 more genes
    nsv6334421copy number variation1nstd223human GRCh38 chr1: 197,930,401-197,932,700 , GRCh37.p13 chr1: 197,899,531-197,901,830 LHX9
    nsv6331701copy number variation1nstd223human GRCh38 chr1: 197,903,858-197,911,344 , GRCh37.p13 chr1: 197,872,988-197,880,474 C1orf53, LHX9
    nsv6327919copy number variation1nstd223human GRCh38 chr1: 197,852,608-197,914,971 , GRCh37.p13 chr1: 197,821,738-197,884,101 C1orf53, LHX9
    nsv6326919copy number variation1nstd223human GRCh38 chr1: 197,898,901-197,910,800 , GRCh37.p13 chr1: 197,868,031-197,879,930 C1orf53, LHX9
    nsv6324258copy number variation1nstd223human GRCh38 chr1: 197,924,888-197,925,184 , GRCh37.p13 chr1: 197,894,018-197,894,314 LHX9
    nsv6323203copy number variation1nstd223human GRCh38 chr1: 197,929,201-197,931,500 , GRCh37.p13 chr1: 197,898,331-197,900,630 LHX9
    nsv6298182copy number variation1nstd186human GRCh37 chr1: 197,003,162-198,463,889 , GRCh38.p12 chr1: 197,034,032-198,494,759 PRR13P1, ZBTB41, 14 more genes
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