A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17688216



Internal ID111882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:59206621..59207063hg38UCSC Ensembl
chr13:59780755..59781197hg19UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg38443
hg19443
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5509853
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17688216
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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