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Items: 1 to 20 of 154

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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
    nsv7040350inversion1nstd229human GRCh38 chr1: 228,097,467-228,172,625 , GRCh37.p13 chr1: 228,285,168-228,360,326 IBA57-DT, MIR3620, 8 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
    nsv6669095copy number variation1nstd229human GRCh38 chr1: 228,037,909-228,105,672 , GRCh37.p13 chr1: 228,225,610-228,293,373 ARF1, WNT3A, 4 more genes
    nsv6668439copy number variation1nstd229human GRCh38 chr1: 228,005,301-228,416,300 , GRCh37.p13 chr1: 228,193,002-228,604,001 LOC101927401, GUK1, 16 more genes
    nsv6666775copy number variation1nstd229human GRCh38 chr1: 228,092,201-228,103,843 , GRCh37.p13 chr1: 228,279,902-228,291,544 MIR3620, C1orf35, 1 more genes
    nsv6638068copy number variation1nstd102humanassociation GRCh38 chr1: 208,430,918-228,938,006 , GRCh37.p13 chr1: 208,604,263-229,073,753 AURKAP1, TLR5, 372 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
    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
    nsv6310790copy number variation2nstd102humanUncertain significance GRCh37 chr1: 228,194,830-228,566,496 , GRCh38.p12 chr1: 228,007,129-228,378,795 MIR3620, GUK1, 13 more genes
    nsv6290198copy number variation1nstd102humanUncertain significance GRCh37 chr1: 227,782,268-229,506,509 , GRCh38.p12 chr1: 227,594,567-229,370,762 BTNL10P, TRIM17, 70 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
    nsv6133646copy number variation1nstd213human GRCh37 chr1: 226,280,000-228,400,001 , GRCh38.p12 chr1: 226,092,299-228,212,300 MRPL55, LIN9, 62 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
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
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