A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17686603



Internal ID110269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30619638..30619897hg38UCSC Ensembl
chr13:31193775..31194034hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5509123
Supporting Variants
Samples
Known GenesUSPL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17686603
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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