A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221609



Internal ID22365937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:67402725..67441891hg38UCSC Ensembl
OuterchrX:66622567..66661733hg19UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg381259
hg191259
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269777, nssv14269776, nssv14269778
SamplesNA19239, HG00731, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221609
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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