A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5930719



Internal ID22705990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:14193640..14337366hg38UCSC Ensembl
chr20:14174286..14318012hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38143727
hg19143727
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17399203
Samples
Known GenesFLRT3, MACROD2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5930719
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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