A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17688251



Internal ID111917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:59924049..59934581hg38UCSC Ensembl
chr13:60498183..60508715hg19UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg3810533
hg1910533
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5511314
Supporting Variants
Samples
Known GenesDIAPH3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17688251
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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