A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269045



Internal ID22256175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:33400692..33412739hg38UCSC Ensembl
OuterchrX:33418809..33430856hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg386189
hg196189
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222044
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269045
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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