A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473023



Internal ID250723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:134282407..134283255hg38UCSC Ensembl
chr6:134603545..134604393hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38849
hg19849
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16969814
Samples
Known GenesSGK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473023
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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