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Items: 1 to 20 of 169

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099196copy number variation1nstd231human GRCh38.p12 chr1: 42,172,633-43,430,191 , GRCh37 chr1: 42,638,304-43,895,862 CDC20, MPL, 43 more genes
    nsv7045578inversion1nstd229human GRCh38 chr1: 43,282,621-43,412,254 , GRCh37.p13 chr1: 43,748,292-43,877,925 LOC112268225, TIE1, 9 more genes
    nsv7039200inversion1nstd229human GRCh38 chr1: 43,310,824-43,477,978 , GRCh37.p13 chr1: 43,776,495-43,943,649 SZT2-AS1, MED8-AS1, 11 more genes
    nsv6650194copy number variation1nstd229human GRCh38 chr1: 43,304,345-43,310,260 , GRCh37.p13 chr1: 43,770,016-43,775,931 TIE1
    nsv6650192copy number variation1nstd229human GRCh38 chr1: 43,282,025-43,341,533 , GRCh37.p13 chr1: 43,747,696-43,807,204 TIE1, C1orf210, 1 more genes
    nsv6649700copy number variation1nstd229human GRCh38 chr1: 43,282,601-43,310,800 , GRCh37.p13 chr1: 43,748,272-43,776,471 TIE1, C1orf210
    nsv6333133copy number variation1nstd223human GRCh38 chr1: 43,302,183-43,304,760 , GRCh37.p13 chr1: 43,767,854-43,770,431 TIE1
    nsv6318803copy number variation1nstd223human GRCh38 chr1: 43,304,986-43,306,483 , GRCh37.p13 chr1: 43,770,657-43,772,154 TIE1
    nsv6313688copy number variation1nstd102humanPathogenic GRCh37 chr1: 33,285,582-47,891,811 , GRCh38.p12 chr1: 32,819,981-47,426,139 LOC107984940, PPIAP36, 407 more genes
    nsv6163822copy number variation1nstd214human GRCh38 chr1: 43,308,400-43,308,456 , GRCh37.p13 chr1: 43,774,071-43,774,127 TIE1
    nsv6133994copy number variation1nstd213human GRCh37 chr1: 37,480,000-43,930,001 , GRCh38.p12 chr1: 37,014,399-43,464,330 BMP8B, CDC20, 183 more genes
    nsv5984148copy number variation1nstd212human GRCh38 chr1: 43,308,400-43,308,457 , GRCh37.p13 chr1: 43,774,071-43,774,128 TIE1
    nsv5673174copy number variation1nstd102humanPathogenic GRCh37 chr1: 43,392,692-43,870,241 , GRCh38.p12 chr1: 42,927,021-43,404,570 TMEM125, RNA5SP46, 19 more genes
    nsv5569494copy number variation1nstd207human GRCh38 chr1: 43,308,399-43,308,456 , GRCh37.p13 chr1: 43,774,070-43,774,127 TIE1
    nsv4906194copy number variation1nstd200human GRCh38 chr1: 43,304,988-43,306,483 , GRCh37.p13 chr1: 43,770,659-43,772,154 TIE1
    nsv4906193copy number variation1nstd200human GRCh38 chr1: 43,302,183-43,306,483 , GRCh37.p13 chr1: 43,767,854-43,772,154 TIE1
    nsv4906192copy number variation1nstd200human GRCh38 chr1: 43,302,184-43,304,760 , GRCh37.p13 chr1: 43,767,855-43,770,431 TIE1
    nsv4903411copy number variation1nstd200human GRCh38 chr1: 43,315,347-43,326,465 , GRCh37.p13 chr1: 43,781,018-43,792,136 TIE1
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
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