A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512064



Internal ID15851489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:123314036..123317539hg38UCSC Ensembl
Outerchr8:124326276..124329779hg19UCSC Ensembl
Outerchr8:124395457..124398960hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg383504
hg193504
hg183504
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624617
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)nsv512064
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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