A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6554212



Internal ID20927318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:59029501..59033600hg38UCSC Ensembl
chr20:57604556..57608655hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg384100
hg194100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18203344
Samples
Known GenesATP5E, SLMO2, SLMO2-ATP5E
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6554212
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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