A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18173600



Internal ID20740640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:99082501..99090900hg38UCSC Ensembl
chr8:100094729..100103128hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg388400
hg198400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6422248
Supporting Variants
Samples
Known GenesVPS13B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18173600
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0002


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