A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468920



Internal ID246712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:37145372..37511030hg38UCSC Ensembl
chr5:37145474..37511132hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38365659
hg19365659
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv398n206
Supporting Variantsnssv16964369
Samples
Known GenesC5orf42, NUP155, WDR70
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468920
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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