A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16923830



Internal ID16647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:217380557..217493254hg38UCSC Ensembl
chr2:218245280..218357977hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38112698
hg19112698
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5452637
Supporting Variants
Samples
Known GenesDIRC3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16923830
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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