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Items: 1 to 20 of 74

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv997145copy number variation1nstd45humanPathogenic GRCh37 chrX: 44,732,421-44,971,857 , GRCh38.p12 chrX: 44,873,175-45,112,612 KDM6A
    nsv3319002copy number variation1nstd45humanPathogenic GRCh37 chrX: 73,952,691-74,145,287 , GRCh38.p12 chrX: 74,732,856-74,925,452 NEXMIF
    nsv3071861copy number variation1nstd45humanPathogenic GRCh37 chrX: 109,917,084-110,039,286 , GRCh38.p12 chrX: 110,673,856-110,796,058 CHRDL1
    nsv997142copy number variation1nstd45humanPathogenic GRCh37 chrX: 99,546,642-99,665,271 , GRCh38.p12 chrX: 100,291,644-100,410,273 PCDH19
    nsv3170336copy number variation1nstd45humanPathogenic GRCh38.p12 chr2: 182,924,851-183,038,858 , GRCh37 chr2: 183,789,579-183,903,586 NCKAP1
    nsv997128copy number variation1nstd45humanPathogenic GRCh37 chrX: 53,963,113-54,071,569 , GRCh38.p12 chrX: 53,936,680-54,045,136 PHF8
    nsv997125copy number variation1nstd45humanPathogenic GRCh37 chrX: 30,671,476-30,749,579 , GRCh38.p12 chrX: 30,653,359-30,731,462 GK
    nsv3318992copy number variation1nstd45humanPathogenic GRCh38.p12 chr1: 27,534,245-27,603,632 , GRCh37 chr1: 27,860,756-27,930,143 AHDC1
    nsv997170copy number variation1nstd45humanPathogenic GRCh37 chrX: 135,067,583-135,129,428 , GRCh38.p12 chrX: 135,985,424-136,047,269 SLC9A6
    nsv997172copy number variation1nstd45humanPathogenic GRCh37 chrX: 133,507,342-133,562,822 , GRCh38.p12 chrX: 134,373,312-134,428,792 PHF6
    nsv997141copy number variation1nstd45humanPathogenic GRCh37 chrX: 131,211,014-131,262,050 , GRCh38.p12 chrX: 132,076,986-132,128,022 FRMD7
    nsv997112copy number variation1nstd45humanPathogenic GRCh37 chrX: 2,852,673-2,886,351 , GRCh38.p12 chrX: 2,934,632-2,968,310 ARSL
    nsv1154323copy number variation1nstd45humanPathogenic GRCh38.p12 chr10: 78,033,760-78,056,813 , GRCh37 chr10: 79,793,518-79,816,571 RPS24
    nsv997179copy number variation1nstd45humanPathogenic GRCh37 chrX: 11,129,406-11,141,206 , GRCh38.p12 chrX: 11,111,286-11,123,086 HCCS
    nsv997169copy number variation1nstd45humanPathogenic GRCh37 chrX: 136,648,286-136,659,850 , GRCh38.p12 chrX: 137,566,127-137,577,691 ZIC3
    nsv997113copy number variation1nstd45humanPathogenic GRCh37 chrX: 48,334,409-48,344,752 , GRCh38.p12 chrX: 48,476,021-48,486,364 FTSJ1
    nsv4449658copy number variation1nstd45humanPathogenic GRCh37 chrX: 118,708,430-118,718,392 , GRCh38.p12 chrX: 119,574,467-119,584,429 UBE2A
    nsv3170339copy number variation1nstd45humanPathogenic GRCh38.p12 chr2: 161,416,094-161,425,867 , GRCh37 chr2: 162,272,605-162,282,378 TBR1
    nsv3170347copy number variation1nstd45humanPathogenic GRCh38.p12 chr2: 5,692,667-5,701,385 , GRCh37 chr2: 5,832,799-5,841,517 SOX11
    nsv4449617copy number variation1nstd45humanPathogenic GRCh38.p12 chr1: 244,048,939-244,057,476 , GRCh37 chr1: 244,212,241-244,220,778 ZBTB18
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