A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18235755



Internal ID20802795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:95022601..95030600hg38UCSC Ensembl
chr8:96034829..96042828hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg388000
hg198000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6432806
Supporting Variants
Samples
Known GenesNDUFAF6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18235755
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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