A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16917777



Internal ID12592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127666454..127666594hg38UCSC Ensembl
chr2:128424028..128424168hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5435260
Supporting Variants
Samples
Known GenesLIMS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16917777
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.045426


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