A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5928517



Internal ID22703758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:10417524..10417597hg38UCSC Ensembl
chr20:10398172..10398245hg19UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17392595
Samples
Known GenesMKKS
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5928517
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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