A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17404341



Internal ID22462211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46383639..46383688hg38UCSC Ensembl
chr2:46610778..46610827hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5876359
Supporting Variants
Samples
Known GenesEPAS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17404341
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency1.00


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