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Items: 1 to 20 of 71098

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4684097copy number variation1nstd102humanPathogenic GRCh38 chr5: 119,499,315-119,499,551 , GRCh37 chr5: 118,835,010-118,835,246 HSD17B4
    nsv4684123copy number variation1nstd102humanPathogenic GRCh37 chr5: 118,837,734-118,837,785 , GRCh38 chr5: 119,502,039-119,502,090 HSD17B4
    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
    nsv997198copy number variation1nstd45humanPathogenic GRCh38.p12 chr12: 65,169,571-65,248,361 , GRCh37 chr12: 65,563,351-65,642,141 LEMD3
    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
    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
    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
    nsv997138copy number variation1nstd45humanPathogenic GRCh37 chrX: 48,380,164-48,387,104 , GRCh38.p12 chrX: 48,521,776-48,528,716 EBP
    nsv997148copy number variation1nstd45humanPathogenic GRCh37 chrX: 154,487,519-154,493,874 , GRCh38.p12 chrX: 155,258,234-155,264,589 RAB39B
    nsv997027copy number variation1nstd45humanPathogenic GRCh37 chr5: 172,659,107-172,662,315 , GRCh38.p12 chr5: 173,232,104-173,235,312 NKX2-5
    nsv3888101copy number variation1nstd102humanPathogenic GRCh37 chr7: 156,539,605-156,619,298 , GRCh38 chr7: 156,746,911-156,826,604 LMBR1
    nsv997056copy number variation1nstd45humanPathogenic GRCh37 chr7: 156,583,796-156,584,568 , GRCh38.p12 chr7: 156,791,102-156,791,874 LMBR1
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