A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16911055



Internal ID8142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:29098359..29099614hg38UCSC Ensembl
chr2:29321225..29322480hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg381256
hg191256
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5434704
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16911055
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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