A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221601



Internal ID22365930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:123519710..123543739hg38UCSC Ensembl
OuterchrX:122653561..122677590hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg381782
hg191782
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270118, nssv14270123, nssv14270119, nssv14270117, nssv14270122, nssv14270125, nssv14270124, nssv14270120, nssv14270121
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221601
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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