A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512053



Internal ID15851478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:72875316..72881677hg38UCSC Ensembl
Outerchr8:73787551..73793912hg19UCSC Ensembl
Outerchr8:73950105..73956466hg18UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg386362
hg196362
hg186362
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624605
Samples1
Known GenesKCNB2
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512053
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer