A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6386128



Internal ID21043681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:69577200..69626615hg38UCSC Ensembl
chr4:70442918..70492333hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3849416
hg1949416
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5324n223
Supporting Variantsnssv18211700
Samples
Known GenesUGT2A1, UGT2A2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6386128
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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