A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16922612



Internal ID15843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:179863146..179863183hg38UCSC Ensembl
chr2:180727873..180727910hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5539127
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16922612
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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