A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16924830



Internal ID17296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:210212796..210215232hg38UCSC Ensembl
chr2:211077520..211079956hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg382437
hg192437
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5445071
Supporting Variants
Samples
Known GenesACADL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16924830
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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