A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18234779



Internal ID20801819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:86520140..86520346hg38UCSC Ensembl
chr8:87532368..87532574hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38207
hg19207
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6420718
Supporting Variants
Samples
Known GenesCPNE3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18234779
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00012


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