A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5511537



Internal ID288114
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 StatusM
Merged Variants
Supporting Variantsnssv17697187
Samples
Known GenesNRDE2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5511537
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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