A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268986



Internal ID22284306
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213356
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268986
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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