A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6430368



Internal ID21087921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144023890..144301209hg38UCSC Ensembl
chr8:145091982..145524892hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38277320
hg19432911
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18222268
Samples
Known GenesBOP1, CYC1, EXOSC4, FAM203A, GPAA1, HSF1, KIAA1875, MAF1, MIR6846, MIR6847, MIR7112-2, MROH1, OPLAH, SCXA, SCXB, SHARPIN, SPATC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6430368
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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