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Items: 1 to 20 of 411

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148175copy number variation1nstd102humanPathogenic GRCh38 chr1: 230,178,121-243,646,135 , GRCh37.p13 chr1: 230,313,867-243,809,437 AGT, MAP10, 221 more genes
    nsv7143909insertion1nstd232human GRCh37.p13 chr1: 231,526,832-231,526,832 , GRCh38.p12 chr1: 231,391,086-231,391,086 EGLN1
    nsv7138950insertion1nstd232human GRCh37.p13 chr1: 231,526,809-231,526,809 , GRCh38.p12 chr1: 231,391,063-231,391,063 EGLN1
    nsv7099266copy number variation1nstd231human GRCh38.p12 chr1: 226,993,371-235,936,592 , GRCh37 chr1: 227,181,072-236,099,892 ACTA1, AGT, 223 more genes
    nsv7093371copy number variation1nstd102humannot provided GRCh37 chr1: 224,230,307-243,181,599 , GRCh38.p12 chr1: 224,042,605-243,018,297 RPL36P6, MTND4LP21, 377 more genes
    nsv7048784inversion1nstd229human GRCh38 chr1: 231,275,843-232,093,146 , GRCh37.p13 chr1: 231,411,589-232,228,892 TSNAX-DISC1, LOC105373171, 15 more genes
    nsv7048727inversion1nstd229human GRCh38 chr1: 231,257,209-234,326,619 , GRCh37.p13 chr1: 231,392,955-234,462,365 LOC105373171, LINC01744, 44 more genes
    nsv7044357inversion1nstd229human GRCh38 chr1: 230,487,375-232,830,868 , GRCh37.p13 chr1: 230,623,121-232,966,614 ARV1, C1orf131, 51 more genes
    nsv7044310inversion1nstd229human GRCh38 chr1: 230,890,958-235,370,433 , GRCh37.p13 chr1: 231,026,704-235,533,748 TARBP1, LOC105373170, 86 more genes
    nsv7042899inversion1nstd229human GRCh38 chr1: 228,807,456-232,597,605 , GRCh37.p13 chr1: 228,943,203-232,733,351 LOC102723935, LOC107985357, 73 more genes
    nsv6677161copy number variation1nstd229human GRCh38 chr1: 231,375,311-231,375,343 , GRCh37.p13 chr1: 231,511,057-231,511,089 EGLN1
    nsv6676614copy number variation1nstd229human GRCh38 chr1: 231,388,278-231,388,515 , GRCh37.p13 chr1: 231,524,024-231,524,261 EGLN1
    nsv6670489copy number variation1nstd229human GRCh38 chr1: 227,575,489-231,747,964 , GRCh37.p13 chr1: 227,763,190-231,883,710 FAM89A, RNA5S14, 127 more genes
    nsv6668384copy number variation1nstd229human GRCh38 chr1: 231,399,633-231,410,292 , GRCh37.p13 chr1: 231,535,379-231,546,038 EGLN1
    nsv6667308copy number variation1nstd229human GRCh38 chr1: 231,377,901-231,384,000 , GRCh37.p13 chr1: 231,513,647-231,519,746 EGLN1
    nsv6667187copy number variation1nstd229human GRCh38 chr1: 231,395,711-231,398,943 , GRCh37.p13 chr1: 231,531,457-231,534,689 EGLN1
    nsv6666880copy number variation1nstd229human GRCh38 chr1: 231,381,311-231,396,139 , GRCh37.p13 chr1: 231,517,057-231,531,885 EGLN1
    nsv6664483copy number variation1nstd229human GRCh38 chr1: 231,392,217-231,401,881 , GRCh37.p13 chr1: 231,527,963-231,537,627 EGLN1
    nsv6636794copy number variation1nstd102humanPathogenic GRCh37 chr1: 223,972,939-249,224,684 , GRCh38.p12 chr1: 223,785,237-248,930,485 SEPTIN7P13, WNT3A, 546 more genes
    nsv6636265copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 227,992,928-236,659,905 , GRCh38.p12 chr1: 227,805,227-236,496,605 ACTA1, AGT, 211 more genes
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