A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17687166



Internal ID110832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:41468941..41468992hg38UCSC Ensembl
chr13:42043077..42043128hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5563298
Supporting Variants
Samples
Known GenesRGCC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17687166
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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