A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6543536



Internal ID20916782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45315524..45316863hg38UCSC Ensembl
chr20:43944164..43945503hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg381340
hg191340
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202892
Samples
Known GenesRBPJL
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6543536
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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