A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18224022



Internal ID20791062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:113012001..113032600hg38UCSC Ensembl
chr8:114024230..114044829hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3820600
hg1920600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6416086
Supporting Variants
Samples
Known GenesCSMD3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18224022
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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