A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512260



Internal ID15851685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:29126267..29129616hg38UCSC Ensembl
Outerchr12:29279200..29282549hg19UCSC Ensembl
Outerchr12:29170467..29173816hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg383350
hg193350
hg183350
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624835
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)nsv512260
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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