A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3206637



Internal ID22355149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:129226307..129252778hg38UCSC Ensembl
OuterchrX:128360284..128386755hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg3826472
hg1926472
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268433, nssv14268434
SamplesNA19238, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3206637
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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