A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17694451



Internal ID118117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:94288862..94288915hg38UCSC Ensembl
chr13:94941116..94941169hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5513158
Supporting Variants
Samples
Known GenesGPC6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17694451
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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