A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17686693



Internal ID110359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:31947261..31947592hg38UCSC Ensembl
chr13:32521398..32521729hg19UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg38332
hg19332
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5505996
Supporting Variants
Samples
Known GenesEEF1DP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17686693
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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