A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496034



Internal ID273123
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 StatusM
Merged Variants
Supporting Variantsnssv17045181
Samples
Known GenesCAPN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496034
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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