A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6430543



Internal ID21088096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:1682606..1920454hg38UCSC Ensembl
chr8:1630772..1868620hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38237849
hg19237849
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18231831
Samples
Known GenesARHGEF10, CLN8, DLGAP2, MIR596
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6430543
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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