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Items: 1 to 20 of 290

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7144152insertion1nstd232human GRCh37.p13 chr1: 229,635,567-229,635,567 , GRCh38.p12 chr1: 229,499,820-229,499,820 NUP133
    nsv7142877insertion1nstd232human GRCh37.p13 chr1: 229,634,056-229,634,056 , GRCh38.p12 chr1: 229,498,309-229,498,309 NUP133
    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
    nsv6677696copy number variation1nstd229human GRCh38 chr1: 229,498,578-229,501,965 , GRCh37.p13 chr1: 229,634,325-229,637,712 NUP133
    nsv6676857copy number variation1nstd229human GRCh38 chr1: 229,453,222-229,453,404 , GRCh37.p13 chr1: 229,588,969-229,589,151 NUP133
    nsv6676545copy number variation1nstd229human GRCh38 chr1: 229,464,401-229,466,200 , GRCh37.p13 chr1: 229,600,148-229,601,947 NUP133
    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
    nsv6666578copy number variation1nstd229human GRCh38 chr1: 229,502,301-229,562,900 , GRCh37.p13 chr1: 229,638,048-229,698,647 RNA5SP78, RNU4-21P, 3 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
    nsv6662504copy number variation1nstd229human GRCh38 chr1: 229,473,040-229,476,824 , GRCh37.p13 chr1: 229,608,787-229,612,571 NUP133
    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
    nsv6660633copy number variation1nstd229human GRCh38 chr1: 229,479,267-229,482,758 , GRCh37.p13 chr1: 229,615,014-229,618,505 NUP133
    nsv6658912copy number variation1nstd229human GRCh38 chr1: 229,450,914-229,455,154 , GRCh37.p13 chr1: 229,586,661-229,590,901 NUP133
    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
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