A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6378590



Internal ID21036143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:128809401..128813400hg38UCSC Ensembl
chr4:129730556..129734555hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg384000
hg194000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18210313
Samples
Known GenesJADE1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6378590
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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