A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5463440



Internal ID241344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:134120856..134122241hg38UCSC Ensembl
chr6:134441994..134443379hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg381386
hg191386
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16969796
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5463440
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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