A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6426684



Internal ID21084237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:53848948..54247340hg38UCSC Ensembl
chr8:54761508..55159900hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38398393
hg19398393
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18224280
Samples
Known GenesLYPLA1, MRPL15, RGS20, TCEA1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6426684
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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