A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17692153



Internal ID115819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:67121183..67121183hg38UCSC Ensembl
chr13:67695315..67695315hg19UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5432444
Supporting Variants
Samples
Known GenesPCDH9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17692153
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.007678


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