A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18229247



Internal ID20796287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:67324050..67327613hg38UCSC Ensembl
chr8:68236285..68239848hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg383564
hg193564
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6419260
Supporting Variants
Samples
Known GenesARFGEF1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18229247
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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