A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269934



Internal ID22146745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:82977164..83002661hg38UCSC Ensembl
OuterchrX:82232172..82257669hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg381328
hg191328
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219986
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269934
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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