A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17686783



Internal ID110449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:33822438..33822438hg38UCSC Ensembl
chr13:34396575..34396575hg19UCSC Ensembl
Cytoband13q13.2
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5546584
Supporting Variants
Samples
Known GenesRFC3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17686783
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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