A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16911148



Internal ID8200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:20425000..20425099hg38UCSC Ensembl
chr2:20624761..20624860hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5445750
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16911148
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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