A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512308



Internal ID15851733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:27693091..27696430hg38UCSC Ensembl
Outerchr13:28267228..28270567hg19UCSC Ensembl
Outerchr13:27165228..27168567hg18UCSC Ensembl
Cytoband13q12.2
Allele length
AssemblyAllele length
hg383340
hg193340
hg183340
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624887
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)nsv512308
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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