A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16911760



Internal ID8603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:34253000..34573619hg38UCSC Ensembl
chr2:34478067..34798686hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38320620
hg19320620
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6139939
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16911760
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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