A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17393588



Internal ID22451458
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 StatusS
Merged Variantsnsv5948413
Supporting Variants
Samples
Known GenesNFS1, RBM39, ROMO1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17393588
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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