A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4433247



Internal ID21395249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:18675357..18676356hg38UCSC Ensembl
chr20:18656001..18657000hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15753300
SamplesMDQ010
Known GenesDTD1
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4433247
Frequency
Sample Size15
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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