A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17047353



Internal ID99415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:46607086..46610509hg38UCSC Ensembl
chr11:46628636..46632059hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg383424
hg193424
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5512531
Supporting Variants
Samples
Known GenesHARBI1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17047353
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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