A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17417680



Internal ID22475550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:13416018..13520243hg38UCSC Ensembl
chr6:13416250..13520475hg19UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg38104226
hg19104226
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5898451
Supporting Variants
Samples
Known GenesGFOD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17417680
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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