A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17692238



Internal ID115904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:102750453..102750504hg38UCSC Ensembl
chr13:103402803..103402854hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg38152
hg19152
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5425197
Supporting Variants
Samples
Known GenesCCDC168
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17692238
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001093


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