A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5878067



Internal ID22653032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:69379574..69379975hg38UCSC Ensembl
chr2:69606706..69607107hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38402
hg19402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17406222
Samples
Known GenesGFPT1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5878067
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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