A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5467998



Internal ID245805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:165462126..165480473hg38UCSC Ensembl
chr6:165875614..165893961hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3818348
hg1918348
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16990314
Samples
Known GenesPDE10A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5467998
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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