A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194871



Internal ID22345131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:86966015..87048490hg38UCSC Ensembl
OuterchrX:86221018..86303493hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg3882476
hg1982476
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268337, nssv14268338
SamplesNA19238, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194871
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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