A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5464373



Internal ID242251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:53173556..53204861hg38UCSC Ensembl
chr4:54039723..54071028hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3831306
hg1931306
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16951022
Samples
Known GenesSCFD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5464373
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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