A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18219502



Internal ID20786542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:96506952..96508277hg38UCSC Ensembl
chr8:97519180..97520505hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg381326
hg191326
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6417058
Supporting Variants
Samples
Known GenesSDC2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18219502
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00113


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