A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17692630



Internal ID116296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:100146570..100148469hg38UCSC Ensembl
chr13:100798824..100800723hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg381900
hg191900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5502276
Supporting Variants
Samples
Known GenesPCCA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17692630
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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