A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16923444



Internal ID16400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:189768723..189768774hg38UCSC Ensembl
chr2:190633449..190633500hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5398139
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16923444
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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