A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17697187



Internal ID120853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:90317285..90317360hg38UCSC Ensembl
chr14:90783629..90783704hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5511537
Supporting Variants
Samples
Known GenesNRDE2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17697187
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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