A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18217287



Internal ID20784327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:140597101..140600900hg38UCSC Ensembl
chr8:141607200..141610999hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg383800
hg193800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6426686
Supporting Variants
Samples
Known GenesAGO2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18217287
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00178


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