A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17691050



Internal ID114716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:88350619..88352883hg38UCSC Ensembl
chr13:89002874..89005138hg19UCSC Ensembl
Cytoband13q31.2
Allele length
AssemblyAllele length
hg382265
hg192265
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5499011
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17691050
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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