A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18222203



Internal ID20789243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:47710545..47907837hg38UCSC Ensembl
chr8:48623107..48820397hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38197293
hg19197291
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6434617
Supporting Variants
Samples
Known GenesCEBPD, PRKDC, SPIDR
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18222203
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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