A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18228798



Internal ID20795838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:103783801..103785200hg38UCSC Ensembl
chr8:104796029..104797428hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg381400
hg191400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6416670
Supporting Variants
Samples
Known GenesRIMS2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18228798
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00017


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