A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418169



Internal ID197351
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 StatusM
Merged Variants
Supporting Variantsnssv17686972
Samples
Known GenesTRPC4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418169
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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