A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17694426



Internal ID118092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:93859942..93869534hg38UCSC Ensembl
chr13:94512195..94521787hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg389593
hg199593
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5498285
Supporting Variants
Samples
Known GenesGPC6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17694426
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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