A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14366193



Internal ID22120634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:76212781..76214305hg38UCSC Ensembl
chr13:76786917..76788441hg19UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg381525
hg191525
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217808
Supporting Variants
SamplesHG00512
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14366193
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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