A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5898451



Internal ID22673566
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 StatusM
Merged Variants
Supporting Variantsnssv17417680
Samples
Known GenesGFOD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5898451
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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