A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17692807



Internal ID116473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:76385163..76402341hg38UCSC Ensembl
chr13:76959299..76976477hg19UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg3817179
hg1917179
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5503029
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17692807
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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