A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5543797



Internal ID318018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:66511954..66512004hg38UCSC Ensembl
chr11:66279425..66279475hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17046195
Samples
Known GenesBBS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5543797
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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