A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17686593



Internal ID110259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30541357..30541417hg38UCSC Ensembl
chr13:31115494..31115554hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5508256
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17686593
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.033874


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