A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5506366



Internal ID283115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:101465195..101465313hg38UCSC Ensembl
chr11:101335926..101336044hg19UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17051328
Samples
Known GenesTRPC6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5506366
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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