A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17693080



Internal ID116746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:92108755..92120992hg38UCSC Ensembl
chr13:92761008..92773245hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3812238
hg1912238
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5497340
Supporting Variants
Samples
Known GenesGPC5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17693080
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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