A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5960265



Internal ID22735250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45004189..45008204hg38UCSC Ensembl
chr20:43632830..43636845hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg384016
hg194016
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17400247
Samples
Known GenesSTK4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5960265
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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