A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269928



Internal ID22232995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:82734609..82746312hg38UCSC Ensembl
OuterchrX:81990058..82001320hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg381251
hg191251
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226187
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269928
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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