A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512049



Internal ID15851474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:58165621..58166396hg38UCSC Ensembl
Outerchr8:59078180..59078955hg19UCSC Ensembl
Outerchr8:59240734..59241509hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38776
hg19776
hg18776
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624601
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)nsv512049
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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