A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16925244



Internal ID17579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239914330..239916307hg38UCSC Ensembl
chr2:240853747..240855724hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381978
hg191978
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6139798
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16925244
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.006715


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