A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5463433



Internal ID241337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69296014..69348457hg38UCSC Ensembl
chr5:68591841..68644284hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3852444
hg1952444
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16967398
Samples
Known GenesCCDC125
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5463433
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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