A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5940308



Internal ID22715715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:2224825..2385105hg38UCSC Ensembl
chr20:2205471..2365751hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38160281
hg19160281
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17397578
Samples
Known GenesTGM3, TGM6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5940308
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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