A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16923480



Internal ID16422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:190252877..190252928hg38UCSC Ensembl
chr2:191117603..191117654hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5411445
Supporting Variants
Samples
Known GenesHIBCH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16923480
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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