A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16925799



Internal ID17948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230937445..230937445hg38UCSC Ensembl
chr2:231802160..231802160hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38219
hg19219
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5550603
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16925799
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.541057


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