A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5466052



Internal ID243901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:183655520..183660998hg38UCSC Ensembl
chr4:184576673..184582151hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg385479
hg195479
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16959702
Samples
Known GenesRWDD4, TRAPPC11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5466052
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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