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Items: 1 to 20 of 155

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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
    nsv7095514copy number variation1nstd102humanPathogenic GRCh37 chr1: 229,567,246-231,413,288 , GRCh38.p12 chr1: 229,431,499-231,277,542 NUP133-DT, URB2, 42 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
    nsv7056408inversion1nstd229human GRCh38 chr1: 229,713,690-230,314,539 , GRCh37.p13 chr1: 229,849,437-230,450,285 LOC105373161, LOC107985464, 6 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
    nsv6675054copy number variation1nstd229human GRCh38 chr1: 229,995,675-230,005,503 , GRCh37.p13 chr1: 230,131,422-230,141,250 LINC01736
    nsv6673356copy number variation1nstd229human GRCh38 chr1: 230,000,901-230,006,100 , GRCh37.p13 chr1: 230,136,648-230,141,847 LINC01736
    nsv6672211copy number variation1nstd229human GRCh38 chr1: 229,996,429-230,004,182 , GRCh37.p13 chr1: 230,132,176-230,139,929 LINC01736
    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
    nsv6668883copy number variation1nstd229human GRCh38 chr1: 229,962,296-230,033,177 , GRCh37.p13 chr1: 230,098,043-230,168,924 LINC01736
    nsv6665176copy number variation1nstd229human GRCh38 chr1: 230,001,277-230,005,542 , GRCh37.p13 chr1: 230,137,024-230,141,289 LINC01736
    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
    nsv6313841copy number variation1nstd102humanPathogenic GRCh37 chr1: 228,214,912-231,483,538 , GRCh38.p12 chr1: 228,027,211-231,347,792 ISCA1P2, LOC100288703, 105 more genes
    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
    nsv6133981copy number variation1nstd213human GRCh37 chr1: 223,800,000-235,190,001 , GRCh38.p12 chr1: 223,612,298-235,054,254 AGT, H3-3A, 273 more genes
    nsv6133762copy number variation1nstd213human GRCh37 chr1: 228,020,000-235,190,001 , GRCh38.p12 chr1: 227,832,299-235,054,254 ACTA1, AGT, 174 more genes
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