A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512282



Internal ID15851707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:70200560..70203848hg38UCSC Ensembl
Outerchr12:70594340..70597628hg19UCSC Ensembl
Outerchr12:68880607..68883895hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg383289
hg193289
hg183289
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624859
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)nsv512282
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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