A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17697186



Internal ID120852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:90310521..90313129hg38UCSC Ensembl
chr14:90776865..90779473hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg382609
hg192609
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5509021
Supporting Variants
Samples
Known GenesNRDE2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17697186
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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