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Items: 1 to 20 of 137

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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
    nsv7052391inversion1nstd229human GRCh38 chr1: 229,407,655-229,445,523 , GRCh37.p13 chr1: 229,543,402-229,581,270 NUP133, ACTA1, 1 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
    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
    nsv6665949copy number variation1nstd229human GRCh38 chr1: 228,830,419-229,937,200 , GRCh37.p13 chr1: 228,966,166-230,072,947 RAB4A-AS1, HMGN2P19, 24 more genes
    nsv6662083copy number variation1nstd229human GRCh38 chr1: 229,386,401-229,439,600 , GRCh37.p13 chr1: 229,522,148-229,575,347 ACTA1, RN7SKP276, 1 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
    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
    nsv5972650inversion1nstd209human GRCh38 chr1: 229,174,728-232,234,598 , GRCh37.p13 chr1: 229,310,475-232,370,344 , ACTA1, 68 more genes
    nsv5971633inversion1nstd209human GRCh38 chr1: 229,416,331-231,831,980 , GRCh37.p13 chr1: 229,552,078-231,967,726 , ACTA1, 56 more genes
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
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