A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17045181



Internal ID97873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:65202237..65204307hg38UCSC Ensembl
chr11:64969708..64971778hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg382071
hg192071
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5496034
Supporting Variants
Samples
Known GenesCAPN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17045181
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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