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Items: 1 to 20 of 235

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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
    nsv7048587inversion1nstd229human GRCh38 chr1: 229,619,920-229,626,278 , GRCh37.p13 chr1: 229,755,667-229,762,025 TAF5L, URB2
    nsv7045103inversion1nstd229human GRCh38 chr1: 229,619,532-229,630,170 , GRCh37.p13 chr1: 229,755,279-229,765,917 URB2, TAF5L
    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
    nsv6670246copy number variation1nstd229human GRCh38 chr1: 229,611,459-229,611,625 , GRCh37.p13 chr1: 229,747,206-229,747,372 TAF5L
    nsv6669073copy number variation1nstd229human GRCh38 chr1: 229,623,370-229,625,568 , GRCh37.p13 chr1: 229,759,117-229,761,315 TAF5L, URB2
    nsv6666808copy number variation1nstd229human GRCh38 chr1: 229,600,227-229,600,442 , GRCh37.p13 chr1: 229,735,974-229,736,189 TAF5L
    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
    nsv6663071copy number variation1nstd229human GRCh38 chr1: 229,625,093-229,625,212 , GRCh37.p13 chr1: 229,760,840-229,760,959 TAF5L, URB2
    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
    nsv6550564inversion1nstd223human GRCh38 chr1: 229,589,575-229,591,153 , GRCh37.p13 chr1: 229,725,322-229,726,900 TAF5L
    nsv6549900inversion1nstd223human GRCh38 chr1: 229,174,803-232,234,539 , GRCh37.p13 chr1: 229,310,550-232,370,285 EXOC8, KIAA1191P3, 67 more genes
    nsv6541192inversion1nstd223human GRCh38 chr1: 229,595,850-229,596,136 , GRCh37.p13 chr1: 229,731,597-229,731,883 TAF5L
    nsv6335064copy number variation1nstd223human GRCh38 chr1: 229,600,224-229,600,442 , GRCh37.p13 chr1: 229,735,971-229,736,189 TAF5L
    nsv6331196copy number variation1nstd223human GRCh38 chr1: 229,621,701-229,707,700 , GRCh37.p13 chr1: 229,757,448-229,843,447 KIAA1191P3, HMGB1P26, 2 more genes
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