A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5948413



Internal ID22723896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:35671536..35737524hg38UCSC Ensembl
chr20:34259458..34325446hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg3865989
hg1965989
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17393588
Samples
Known GenesNFS1, RBM39, ROMO1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5948413
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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