A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17355912



Internal ID22581581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:101529813..101568124hg38UCSC Ensembl
chr11:101400544..101438855hg19UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg3838312
hg1938312
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5917301
Supporting Variants
Samples
Known GenesTRPC6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17355912
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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