A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17051329



Internal ID102080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:101468239..101468297hg38UCSC Ensembl
chr11:101338970..101339028hg19UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5507406
Supporting Variants
Samples
Known GenesTRPC6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17051329
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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