A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18217611



Internal ID20784651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:103349875..103866372hg38UCSC Ensembl
chr8:104362103..104878600hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38516498
hg19516498
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6422162
Supporting Variants
Samples
Known GenesCTHRC1, DCAF13, RIMS2, SLC25A32
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18217611
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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