A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213356



Internal ID22360327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:9380465..9422133hg38UCSC Ensembl
OuterchrX:9348505..9390173hg19UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg3826829
hg1926829
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10026n152
Supporting Variantsnssv14268981, nssv14268986, nssv14268987, nssv14268983, nssv14268985, nssv14268982, nssv14268984
SamplesHG00512, NA19238, NA19239, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213356
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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