A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16926953



Internal ID18690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231491618..231499618hg38UCSC Ensembl
chr2:232356329..232364329hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg388001
hg198001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6139256
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16926953
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000631


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