A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17693326



Internal ID116992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:79651129..79651213hg38UCSC Ensembl
chr13:80225264..80225348hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5496293
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17693326
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002966


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