A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6404013



Internal ID21061566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:60425193..60622242hg38UCSC Ensembl
chr5:59721020..59918069hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38197050
hg19197050
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18133130
Samples
Known GenesDEPDC1B, PART1, PDE4D
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6404013
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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