A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5461288



Internal ID239245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:37204863..37539399hg38UCSC Ensembl
chr5:37204965..37539501hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38334537
hg19334537
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv398n206
Supporting Variantsnssv16964377
Samples
Known GenesC5orf42, NUP155, WDR70
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5461288
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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