A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16925786



Internal ID17940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230851662..230860659hg38UCSC Ensembl
chr2:231716377..231725374hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg388998
hg198998
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5442555
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16925786
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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