A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17694456



Internal ID118122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:94405554..94408288hg38UCSC Ensembl
chr13:95057808..95060542hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg382735
hg192735
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5512999
Supporting Variants
Samples
Known GenesGPC6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17694456
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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