A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6391661



Internal ID21049214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:128707421..128857268hg38UCSC Ensembl
chr4:129628576..129778423hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg38149848
hg19149848
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18210307
Samples
Known GenesJADE1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6391661
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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