A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17043661



Internal ID96835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:18038897..18038948hg38UCSC Ensembl
chr11:18060444..18060495hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38199
hg19199
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5404644
Supporting Variants
Samples
Known GenesTPH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17043661
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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