A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468408



Internal ID246206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:119303930..119328528hg38UCSC Ensembl
chr4:120225085..120249683hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg3824599
hg1924599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16954156
Samples
Known GenesC4orf3, FABP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468408
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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