A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6390798



Internal ID21048351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:83279001..83287200hg38UCSC Ensembl
chr4:84200154..84208353hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg388200
hg198200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18214723
Samples
Known GenesCOQ2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6390798
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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