A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6389196



Internal ID21046749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68871612..69051531hg38UCSC Ensembl
chr4:69737330..69917249hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38179920
hg19179920
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18211653
Samples
Known GenesUGT2A3, UGT2B10
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6389196
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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