A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17687784



Internal ID111450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:52254103..52337000hg38UCSC Ensembl
chr13:52828238..52911135hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3882898
hg1982898
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5497528
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17687784
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.020052


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