A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16923730



Internal ID16583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:212734923..212825761hg38UCSC Ensembl
chr2:213599647..213690485hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3890839
hg1990839
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5449683
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16923730
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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