A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16928799



Internal ID19911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241523029..241523080hg38UCSC Ensembl
chr2:242462444..242462495hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5394682
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16928799
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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