A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6418915



Internal ID21076468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30127621..30144305hg38UCSC Ensembl
chr8:29985137..30001821hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3816685
hg1916685
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18233205
Samples
Known GenesLEPROTL1, MBOAT4, MIR548O2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6418915
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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