A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497062



Internal ID274121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:106126808..107477062hg38UCSC Ensembl
chr13:106779157..108129410hg19UCSC Ensembl
Cytoband13q33.2
Allele length
AssemblyAllele length
hg381350255
hg191350254
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17692304
Samples
Known GenesARGLU1, EFNB2, FAM155A, LINC00443, LINC00460, LINC00551
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497062
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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