A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17046196



Internal ID98597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:66512073..66512073hg38UCSC Ensembl
chr11:66279544..66279544hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38236
hg19236
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5536264
Supporting Variants
Samples
Known GenesBBS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17046196
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.033095


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