A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14369921



Internal ID22123538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:85787429..85787429hg38UCSC Ensembl
chr13:86361564..86361564hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3560305
Supporting Variants
SamplesHG00512
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14369921
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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