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Items: 1 to 20 of 394

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112690copy number variation1nstd102humanPathogenic GRCh37 chrX: 60,000-155,234,966 , GRCh38.p12 chrX: 10,001-156,005,301 LOC105373176, ZFX-AS1, 2151 more genes
    nsv6112666copy number variation1nstd102humanPathogenic GRCh37 chrX: 139,484,271-149,442,579 , GRCh38.p12 chrX: 140,402,106-150,274,366 MIR508, SPANXN1, 121 more genes
    nsv5979528copy number variation1nstd209human GRCh38 chrX: 149,607,333-149,617,432 , GRCh37.p13 chrX: 148,689,020-148,699,115 , GRCh37.p13 chrX|NW_004070890.2: 5,131,731-5,141,830 TMEM185A
    nsv5974862copy number variation1nstd209human GRCh38 chrX: 149,605,315-149,614,632 , GRCh37.p13 chrX: 148,687,002-148,696,315 , GRCh37.p13 chrX|NW_004070890.2: 5,129,713-5,139,030 TMEM185A
    nsv5974555copy number variation1nstd209human GRCh38 chrX: 149,604,415-149,617,332 , GRCh37.p13 chrX|NW_004070890.2: 5,128,813-5,141,730 , GRCh37.p13 chrX: 148,686,097-148,699,015 TMEM185A
    nsv5974379copy number variation1nstd209human GRCh38 chrX: 149,601,608-149,605,314 , GRCh37.p13 chrX: 148,683,274-148,687,001 , GRCh37.p13 chrX|NW_004070890.2: 5,126,006-5,129,712 TMEM185A
    nsv5881056copy number variation1nstd209human GRCh38 chrX: 149,605,273-149,605,506 , GRCh37.p13 chrX|NW_004070890.2: 5,129,671-5,129,904 , GRCh37.p13 chrX: 148,686,956-148,687,193 TMEM185A
    nsv5672487copy number variation1nstd207human GRCh37.p13 chrX|NW_004070890.2: 5,126,658-5,127,473 , GRCh38 chrX: 149,602,260-149,603,075 , GRCh37.p13 chrX: 148,683,926-148,684,741 TMEM185A
    nsv5665900copy number variation1nstd207human GRCh37.p13 chrX|NW_004070890.2: 5,129,662-5,129,789 , GRCh38 chrX: 149,605,264-149,605,391 , GRCh37.p13 chrX: 148,686,947-148,687,078 TMEM185A
    nsv5664753inversion1nstd207human GRCh37.p13 chrX: 148,684,059-148,734,531 , GRCh38 chrX: 149,602,393-149,652,863 , GRCh37.p13 chrX|NW_004070890.2: 5,126,791-5,177,261 TMEM185A, LOC100420321
    nsv5623478insertion1nstd207human GRCh38 chrX: 149,605,458-149,605,458 , GRCh37.p13 chrX|NW_004070890.2: 5,129,856-5,129,856 , GRCh37.p13 chrX: 148,687,145-148,687,145 TMEM185A
    nsv5610367insertion1nstd207human GRCh38 chrX: 149,605,352-149,605,352 , GRCh37.p13 chrX|NW_004070890.2: 5,129,750-5,129,750 , GRCh37.p13 chrX: 148,687,039-148,687,039 TMEM185A
    nsv5557365sequence alteration1nstd206human GRCh37.p13 chrX|NW_004070890.2: 5,059,217-5,469,910 , GRCh38 chrX: 149,534,819-149,945,512 , GRCh37.p13 chrX: 148,616,351-149,113,730 MAGEA9, HSFX2, 19 more genes
    nsv5547776insertion1nstd206human GRCh38 chrX: 149,631,776-149,631,786 , GRCh37.p13 chrX: 148,713,432-148,713,442 , GRCh37.p13 chrX|NW_004070890.2: 5,156,174-5,156,184 TMEM185A
    nsv5428134copy number variation1nstd206human GRCh38 chrX: 149,601,303-149,655,606 , GRCh37.p13 chrX|NW_004070890.2: 5,125,701-5,180,004 , GRCh37.p13 chrX: 148,682,967-148,737,274 LOC100420321, TMEM185A
    nsv5427530copy number variation1nstd206human GRCh38 chrX: 149,202,856-149,768,033 , GRCh37.p13 chrX: 148,284,386-148,849,694 , GRCh37.p13 chrX|NW_004070890.2: 4,727,253-5,292,431 LOC100420322, IDS2, 13 more genes
    nsv5424778copy number variation1nstd206human GRCh38 chrX: 149,499,121-149,694,032 , GRCh37.p13 chrX|NW_004070890.2: 5,023,519-5,218,430 , GRCh37.p13 chrX: 148,580,652-148,775,692 HSFX3, IDS2, 9 more genes
    nsv5377257translocation1nstd200human GRCh38 chrX: 149,615,287-149,615,287 , GRCh38 chrX: 149,627,684-149,627,684 , GRCh37.p13 chrX|NW_004070890.2: 5,152,082-5,152,082 , GRCh37.p13 chrX: 148,696,970-148,696,970 , GRCh37.p13 chrX: 148,709,365-148,709,365 , GRCh37.p13 chrX|NW_004070890.2: 5,139,685-5,139,685 TMEM185A
    nsv5059979copy number variation1nstd102humanPathogenic GRCh37 chrX: 56,469,080-155,233,731 , GRCh38.p12 chrX: 56,442,647-156,004,066 VDAC1P1, LOC105373299, 1364 more genes
    nsv4909263copy number variation1nstd200human GRCh38 chrX: 149,308,877-149,707,503 , GRCh37.p13 chrX|NW_004070890.2: 4,833,274-5,231,901 , GRCh37.p13 chrX: 148,390,407-148,789,163 EOLA1, LOC107985667, 10 more genes
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