A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5503220



Internal ID280059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:66633797..66633885hg38UCSC Ensembl
chr11:66401268..66401356hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17046212
Samples
Known GenesRBM14-RBM4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5503220
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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