A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6553457



Internal ID20926566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50150958..50178245hg38UCSC Ensembl
chr20:48767495..48794782hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3827288
hg1927288
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18205269
Samples
Known GenesTMEM189, TMEM189-UBE2V1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6553457
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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