A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5503779



Internal ID280594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:101529813..101568127hg38UCSC Ensembl
chr11:101400544..101438858hg19UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg3838315
hg1938315
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17051337
Samples
Known GenesTRPC6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5503779
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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