A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202116



Internal ID22351321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:94133958..94154440hg38UCSC Ensembl
OuterchrX:93388957..93409439hg19UCSC Ensembl
CytobandXq21.32
Allele length
AssemblyAllele length
hg3820483
hg1920483
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268348, nssv14268349
SamplesNA19238, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202116
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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