A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16923422



Internal ID16386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:186820554..186833661hg38UCSC Ensembl
chr2:187685281..187698388hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3813108
hg1913108
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5438031
Supporting Variants
Samples
Known GenesZSWIM2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16923422
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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