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Items: 1 to 20 of 201

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099193copy number variation1nstd231human GRCh38.p12 chr1: 32,456,017-38,905,781 , GRCh37 chr1: 32,921,618-39,371,453 AK2, COL8A2, 151 more genes
    nsv7046918inversion1nstd229human GRCh38 chr1: 34,689,928-38,980,899 , GRCh37.p13 chr1: 35,155,529-39,446,571 LOC105378647, NCDN, 112 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
    nsv7040332inversion1nstd229human GRCh38 chr1: 34,936,903-38,057,517 , GRCh37.p13 chr1: 35,402,504-38,523,189 MAP7D1, RPL12P45, 83 more genes
    nsv6649466copy number variation1nstd229human GRCh38 chr1: 36,062,801-36,545,100 , GRCh37.p13 chr1: 36,528,402-37,010,701 ADPRS, TEKT2, 18 more genes
    nsv6649462copy number variation1nstd229human GRCh38 chr1: 35,975,501-36,714,600 , GRCh37.p13 chr1: 36,441,102-37,180,201 LSM10, LOC105378648, 22 more genes
    nsv6649321copy number variation1nstd229human GRCh38 chr1: 36,093,523-36,097,565 , GRCh37.p13 chr1: 36,559,124-36,563,166 ADPRS, COL8A2
    nsv6649291copy number variation1nstd229human GRCh38 chr1: 36,120,409-36,124,399 , GRCh37.p13 chr1: 36,586,010-36,590,000 COL8A2
    nsv6649290copy number variation1nstd229human GRCh38 chr1: 36,113,925-36,364,964 , GRCh37.p13 chr1: 36,579,526-36,830,565 COL8A2, RN7SL131P, 7 more genes
    nsv6649289copy number variation1nstd229human GRCh38 chr1: 36,095,708-36,096,304 , GRCh37.p13 chr1: 36,561,309-36,561,905 COL8A2
    nsv6636592copy number variation1nstd102humanPathogenic GRCh37 chr1: 35,104,233-37,357,913 , GRCh38.p12 chr1: 34,638,632-36,892,312 EFCAB14P1, SNORA63C, 56 more genes
    nsv6626020copy number variation1nstd224human GRCh37 chr1: 36,548,997-36,571,920 , GRCh38.p12 chr1: 36,083,396-36,106,319 COL8A2, TEKT2, 1 more genes
    nsv6319870copy number variation1nstd223human GRCh38 chr1: 36,120,470-36,121,122 , GRCh37.p13 chr1: 36,586,071-36,586,723 COL8A2
    nsv6318655copy number variation1nstd223human GRCh38 chr1: 36,117,771-36,120,496 , GRCh37.p13 chr1: 36,583,372-36,586,097 COL8A2
    nsv6313765copy number variation1nstd102humanUncertain significance GRCh37 chr1: 36,041,366-39,112,237 , GRCh38.p12 chr1: 35,575,765-38,646,565 RNU6-510P, AGO3, 78 more genes
    nsv6313688copy number variation1nstd102humanPathogenic GRCh37 chr1: 33,285,582-47,891,811 , GRCh38.p12 chr1: 32,819,981-47,426,139 LOC107984940, PPIAP36, 407 more genes
    nsv6313478copy number variation1nstd102humanUncertain significance GRCh37 chr1: 35,950,860-36,635,695 , GRCh38.p12 chr1: 35,485,259-36,170,094 LOC100128093, LOC105378646, 17 more genes
    nsv6154733copy number variation1nstd214human GRCh38 chr1: 36,126,515-36,126,574 , GRCh37.p13 chr1: 36,592,116-36,592,175 COL8A2
    nsv6138465copy number variation1nstd206human GRCh38 chr1: 36,120,358-36,121,680 , GRCh37.p13 chr1: 36,585,959-36,587,281 COL8A2
    nsv6133869copy number variation1nstd213human GRCh37 chr1: 33,400,000-36,950,001 , GRCh38.p12 chr1: 32,934,399-36,484,400 AK2, COL8A2, 77 more genes
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