A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18203344



Internal ID20770384
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 StatusS
Merged Variantsnsv6554212
Supporting Variants
Samples
Known GenesATP5E, SLMO2, SLMO2-ATP5E
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18203344
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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