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Items: 1 to 20 of 213

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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
    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
    nsv7042899inversion1nstd229human GRCh38 chr1: 228,807,456-232,597,605 , GRCh37.p13 chr1: 228,943,203-232,733,351 LOC102723935, LOC107985357, 73 more genes
    nsv6676100copy number variation1nstd229human GRCh38 chr1: 229,317,095-229,320,265 , GRCh37.p13 chr1: 229,452,842-229,456,012 CCSAP
    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
    nsv6669019copy number variation1nstd229human GRCh38 chr1: 229,339,487-229,339,847 , GRCh37.p13 chr1: 229,475,234-229,475,594 CCSAP
    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
    nsv6661530copy number variation1nstd229human GRCh38 chr1: 229,306,201-229,321,300 , GRCh37.p13 chr1: 229,441,948-229,457,047 CCSAP, RAB4A
    nsv6661163copy number variation1nstd229human GRCh38 chr1: 229,340,501-229,344,400 , GRCh37.p13 chr1: 229,476,248-229,480,147 CCSAP
    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
    nsv6334429copy number variation1nstd223human GRCh38 chr1: 229,333,106-229,333,764 , GRCh37.p13 chr1: 229,468,853-229,469,511 CCSAP
    nsv6326949copy number variation1nstd223human GRCh38 chr1: 229,339,487-229,339,847 , GRCh37.p13 chr1: 229,475,234-229,475,594 CCSAP
    nsv6325891copy number variation1nstd223human GRCh38 chr1: 229,330,648-229,333,159 , GRCh37.p13 chr1: 229,466,395-229,468,906 CCSAP
    nsv6325844copy number variation1nstd223human GRCh38 chr1: 229,306,846-229,396,208 , GRCh37.p13 chr1: 229,442,593-229,531,955 CCSAP, RNU6-180P
    nsv6325650copy number variation1nstd223human GRCh38 chr1: 229,312,146-229,320,632 , GRCh37.p13 chr1: 229,447,893-229,456,379 CCSAP
    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
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