A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17687212



Internal ID110878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42368635..42371172hg38UCSC Ensembl
chr13:42942771..42945308hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg382538
hg192538
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5505160
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17687212
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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