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Items: 1 to 20 of 873247

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3880996copy number variation1nstd102humanPathogenic GRCh38 chr2: 148,157,591-148,226,058 , GRCh37.p13 chr2: 148,915,160-148,983,627 MBD5
    nsv5381794copy number variation1nstd102humanPathogenic GRCh37 chr16: 3,784,414-3,821,324 , GRCh38.p12 chr16: 3,734,413-3,771,323 CREBBP
    nsv3873785copy number variation1nstd102humanPathogenic GRCh38 chr16: 14,564,415-14,586,023 , GRCh37 chr16: 14,658,272-14,679,880 PARN
    nsv3879200copy number variation1nstd102humanPathogenic GRCh38 chr6: 161,785,772-161,785,908 , GRCh37 chr6: 162,206,804-162,206,940 PRKN
    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
    nsv997128copy number variation1nstd45humanPathogenic GRCh37 chrX: 53,963,113-54,071,569 , GRCh38.p12 chrX: 53,936,680-54,045,136 PHF8
    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
    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
    nsv3884481copy number variation1nstd102humanLikely pathogenic GRCh38 chr8: 3,914,469-4,157,437 , GRCh37.p13 chr8: 3,771,991-4,014,959 CSMD1
    nsv3876706copy number variation1nstd102humanLikely pathogenic GRCh38 chr20: 42,303,583-42,488,707 , GRCh37.p13 chr20: 40,932,223-41,117,347 PTPRT
    nsv3889638copy number variation1nstd102humanLikely pathogenic GRCh38 chrX: 31,660,226-31,820,401 , GRCh37.p13 chrX: 31,678,343-31,838,518 DMD
    nsv3883761copy number variation1nstd102humanLikely pathogenic GRCh38 chr6: 162,035,873-162,195,188 , GRCh37.p13 chr6: 162,456,905-162,616,220 PRKN
    nsv3887575copy number variation1nstd102humanLikely pathogenic GRCh38 chr6: 162,036,131-162,191,715 , GRCh37.p13 chr6: 162,457,163-162,612,747 PRKN
    nsv4435938copy number variation2nstd102humanPathogenic, Likely pathogenic GRCh37 chr20: 13,448,380-13,597,783 , GRCh38 chr20: 13,467,733-13,617,136 TASP1
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