A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17693777



Internal ID117443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:112916193..112916193hg38UCSC Ensembl
chr13:113570507..113570507hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg383039
hg193039
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5538037
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17693777
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.016427


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