A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6424984



Internal ID21082537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:18079425..18087873hg38UCSC Ensembl
chr8:17936934..17945382hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg388449
hg198449
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18225825
Samples
Known GenesASAH1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6424984
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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