A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5999860



Internal ID21909203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:37113542..37606344hg38UCSC Ensembl
chr5:37113644..37606446hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38492803
hg19492803
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17544707
Samples
Known GenesC5orf42, NUP155, WDR70
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5999860
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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