A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5933034



Internal ID22708341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49647735..49676313hg38UCSC Ensembl
chr13:50221871..50250449hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3828579
hg1928579
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17381103
Samples
Known GenesEBPL
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5933034
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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