A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16923917



Internal ID16706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:222149618..222155618hg38UCSC Ensembl
chr2:223014337..223020337hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6140233
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16923917
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002381


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