A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5952346



Internal ID22727662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49471341..49478406hg38UCSC Ensembl
chr20:48087878..48094943hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg387066
hg197066
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17403521
Samples
Known GenesKCNB1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5952346
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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