A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3953939



Internal ID21374008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63670100..63670442hg38UCSC Ensembl
chr20:62301453..62301795hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38343
hg19343
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15178130
SamplesHG002
Known GenesRTEL1, RTEL1-TNFRSF6B
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3953939
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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