A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6414106



Internal ID21071659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:60402939..60760149hg38UCSC Ensembl
chr5:59698766..60055976hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38357211
hg19357211
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18216476
Samples
Known GenesDEPDC1B, ELOVL7, PART1, PDE4D
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6414106
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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