A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17686972



Internal ID110638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:37866979..37867025hg38UCSC Ensembl
chr13:38441116..38441162hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38302
hg19302
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5418169
Supporting Variants
Samples
Known GenesTRPC4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17686972
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.046987


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