A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512063



Internal ID15851488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:117995063..118000494hg38UCSC Ensembl
Outerchr8:119007302..119012733hg19UCSC Ensembl
Outerchr8:119076483..119081914hg18UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg385432
hg195432
hg185432
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624616
Samples1
Known GenesEXT1
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512063
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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