A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6430139



Internal ID21087692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30435930..30440867hg38UCSC Ensembl
chr8:30293446..30298383hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg384938
hg194938
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18218363
Samples
Known GenesRBPMS
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6430139
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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