A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5563298



Internal ID336235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:41468941..41468992hg38UCSC Ensembl
chr13:42043077..42043128hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687166
Samples
Known GenesRGCC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5563298
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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