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Items: 1 to 20 of 163

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099252copy number variation1nstd231human GRCh38.p12 chr1: 179,130,308-181,685,140 , GRCh37 chr1: 179,099,443-181,654,276 ABL2, CACNA1E, 48 more genes
    nsv7056264inversion1nstd229human GRCh38 chr1: 181,107,116-181,321,144 , GRCh37.p13 chr1: 181,076,252-181,290,280 LINC01732, LOC107985454, 2 more genes
    nsv7039229inversion1nstd229human GRCh38 chr1: 181,173,577-181,173,674 , GRCh37.p13 chr1: 181,142,713-181,142,810 LINC01732
    nsv6645777copy number variation1nstd229human GRCh38 chr1: 181,177,601-181,181,400 , GRCh37.p13 chr1: 181,146,737-181,150,536 LINC01732
    nsv6645631copy number variation1nstd229human GRCh38 chr1: 181,174,955-181,179,400 , GRCh37.p13 chr1: 181,144,091-181,148,536 LINC01732
    nsv6645245copy number variation1nstd229human GRCh38 chr1: 181,074,801-181,220,800 , GRCh37.p13 chr1: 181,043,937-181,189,936 IER5, LINC01732
    nsv6637124copy number variation1nstd102humanPathogenic GRCh37 chr1: 179,727,182-192,260,142 , GRCh38.p12 chr1: 179,758,047-192,291,012 LOC101928933, KIAA1614-AS1, 148 more genes
    nsv6538365inversion1nstd223human GRCh38 chr1: 178,815,320-184,820,865 , GRCh37.p13 chr1: 178,784,455-184,789,999 NPHS2, COLGALT2, 111 more genes
    nsv6310922copy number variation1nstd102humanUncertain significance GRCh37 chr1: 179,520,308-183,559,464 , GRCh38.p12 chr1: 179,551,173-183,590,329 NMNAT2, FAM163A, 78 more genes
    nsv6290451copy number variation1nstd102humanPathogenic GRCh37 chr1: 178,522,021-190,322,133 , GRCh38.p12 chr1: 178,552,886-190,353,003 RNU7-13P, LOC105371642, 167 more genes
    nsv6133950copy number variation1nstd213human GRCh37 chr1: 178,070,000-205,920,001 , GRCh38.p12 chr1: 178,100,865-205,950,873 ADORA1, CACNA1E, 442 more genes
    nsv6133933copy number variation1nstd213human GRCh37 chr1: 161,620,000-196,730,001 , GRCh38.p12 chr1: 161,650,210-196,760,871 FASLG, SERPINC1, 510 more genes
    nsv6133835copy number variation1nstd213human GRCh37 chr1: 177,040,000-182,410,001 , GRCh38.p12 chr1: 177,070,864-182,440,866 VDAC1P4, RASAL2, 92 more genes
    nsv6133576copy number variation1nstd213human GRCh37 chr1: 180,980,000-181,520,001 , GRCh38.p12 chr1: 181,010,864-181,550,865 CACNA1E, MR1, 6 more genes
    nsv6133573copy number variation1nstd213human GRCh37 chr1: 173,820,000-189,960,001 , GRCh38.p12 chr1: 173,850,862-189,990,871 ABL2, ASTN1, 235 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
    nsv5340481translocation1nstd200human GRCh37 chr1: 181,145,590-181,145,590 , GRCh37 chr1: 181,164,168-181,164,168 , GRCh38.p12 chr1: 181,176,454-181,176,454 , GRCh38.p12 chr1: 181,195,032-181,195,032 LINC01732
    nsv4898318copy number variation1nstd200human GRCh38 chr1: 181,174,933-181,179,399 , GRCh37.p13 chr1: 181,144,069-181,148,535 LINC01732
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
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