A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512039



Internal ID15851464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:40432092..40438770hg38UCSC Ensembl
Outerchr8:40289611..40296289hg19UCSC Ensembl
Outerchr8:40408768..40415446hg18UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg386679
hg196679
hg186679
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624589
Samples1
Known Genes
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512039
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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