A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16919031



Internal ID13453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:147830347..147830398hg38UCSC Ensembl
chr2:148587916..148587967hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg38482
hg19482
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5556975
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16919031
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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