A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6518467



Internal ID20891828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:7889435..8637036hg38UCSC Ensembl
chr20:7870082..8617683hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38747602
hg19747602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18204089
Samples
Known GenesHAO1, PLCB1, TMX4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6518467
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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