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Items: 1 to 20 of 139

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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
    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
    nsv7047062inversion1nstd229human GRCh38 chr1: 231,464,693-231,474,543 , GRCh37.p13 chr1: 231,600,439-231,610,289 SNRPD2P2
    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
    nsv6671075copy number variation1nstd229human GRCh38 chr1: 231,456,501-231,474,926 , GRCh37.p13 chr1: 231,592,247-231,610,672 SNRPD2P2
    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
    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
    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
    nsv6549900inversion1nstd223human GRCh38 chr1: 229,174,803-232,234,539 , GRCh37.p13 chr1: 229,310,550-232,370,285 EXOC8, KIAA1191P3, 67 more genes
    nsv6333235copy number variation1nstd223human GRCh38 chr1: 230,091,353-232,880,145 , GRCh37.p13 chr1: 230,227,100-233,015,891 LOC105373196, RN7SL837P, 53 more genes
    nsv6328624copy number variation1nstd223human GRCh38 chr1: 231,319,552-231,476,061 , GRCh37.p13 chr1: 231,455,298-231,611,807 EGLN1, SNRPD2P2, 3 more genes
    nsv6316965copy number variation1nstd223human GRCh38 chr1: 231,456,497-231,474,925 , GRCh37.p13 chr1: 231,592,243-231,610,671 SNRPD2P2
    nsv6313700copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 226,131,690-231,908,227 , GRCh38.p12 chr1: 225,943,990-231,772,481 ACTA1, PARP1, 167 more genes
    nsv6310947copy number variation2nstd102humanUncertain significance GRCh37 chr1: 229,567,246-232,172,577 , GRCh38.p12 chr1: 229,431,499-232,036,831 CAPN9, GNPAT, 56 more genes
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