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Items: 1 to 20 of 193

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099192copy number variation1nstd231human GRCh38.p12 chr1: 31,395,299-32,087,194 , GRCh37 chr1: 31,868,146-32,552,795 ADGRB2, COL16A1, 19 more genes
    nsv7055568inversion1nstd229human GRCh38 chr1: 31,513,394-31,828,725 , GRCh37.p13 chr1: 32,017,064-32,294,326 PEF1-AS1, LOC101929444, 9 more genes
    nsv7051997inversion1nstd229human GRCh38 chr1: 31,611,740-31,672,837 , GRCh37.p13 chr1: 32,077,341-32,138,438 PEF1, PEF1-AS1, 3 more genes
    nsv7046389inversion1nstd229human GRCh38 chr1: 31,492,639-36,569,102 , GRCh37.p13 chr1: 32,017,064-37,034,703 LOC105378642, TMEM35B, 127 more genes
    nsv7044103inversion1nstd229human GRCh38 chr1: 26,905,652-33,050,814 , GRCh37.p13 chr1: 27,232,143-33,516,415 ADGRB2, SNORA16A, 169 more genes
    nsv6648872copy number variation1nstd229human GRCh38 chr1: 31,699,901-31,710,700 , GRCh37.p13 chr1: 32,165,502-32,176,301 COL16A1
    nsv6648726copy number variation1nstd229human GRCh38 chr1: 31,699,920-31,710,696 , GRCh37.p13 chr1: 32,165,521-32,176,297 COL16A1
    nsv6648709copy number variation1nstd229human GRCh38 chr1: 31,211,928-31,733,962 , GRCh37.p13 chr1: 31,684,775-32,199,563 PEF1, EEF1A1P46, 18 more genes
    nsv6648679copy number variation1nstd229human GRCh38 chr1: 31,692,069-31,696,288 , GRCh37.p13 chr1: 32,157,670-32,161,889 COL16A1
    nsv6648661copy number variation1nstd229human GRCh38 chr1: 31,235,267-31,736,466 , GRCh37.p13 chr1: 31,708,114-32,202,067 ZCCHC17, NKAIN1, 18 more genes
    nsv6648228copy number variation1nstd229human GRCh38 chr1: 31,660,538-31,668,405 , GRCh37.p13 chr1: 32,126,139-32,134,006 COL16A1, LOC101929444
    nsv6324468copy number variation1nstd223human GRCh38 chr1: 31,610,919-31,702,511 , GRCh37.p13 chr1: 32,076,520-32,168,112 PEF1, PEF1-AS1, 3 more genes
    nsv6319875copy number variation1nstd223human GRCh38 chr1: 31,694,292-31,694,701 , GRCh37.p13 chr1: 32,159,893-32,160,302 COL16A1
    nsv6313753copy number variation1nstd102humanUncertain significance GRCh37 chr1: 27,543,877-32,819,121 , GRCh38.p12 chr1: 27,217,386-32,353,520 DCDC2B, SNRNP40, 130 more genes
    nsv6133773copy number variation1nstd213human GRCh37 chr1: 31,350,000-33,290,001 , GRCh38.p12 chr1: 30,877,153-32,824,400 ADGRB2, COL16A1, 62 more genes
    nsv5983586copy number variation1nstd212human GRCh38 chr1: 30,209,364-32,642,526 , GRCh37.p13 chr1: 30,682,211-33,108,127 , HDAC1, 69 more genes
    nsv4895774copy number variation1nstd200human GRCh38 chr1: 31,660,537-31,668,404 , GRCh37.p13 chr1: 32,126,138-32,134,005 LOC101929444, COL16A1
    nsv4895773copy number variation1nstd200human GRCh38 chr1: 31,610,919-31,702,511 , GRCh37.p13 chr1: 32,076,520-32,168,112 , COL16A1, 4 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
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