A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18166114



Internal ID20733154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:27494547..27499720hg38UCSC Ensembl
chr8:27352064..27357237hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg385174
hg195174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6430305
Supporting Variants
Samples
Known GenesEPHX2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18166114
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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