A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511501



Internal ID15850926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:104975702..104978093hg38UCSC Ensembl
Outerchr12:104974916..104980359hg38UCSC Ensembl
Innerchr12:105369480..105371871hg19UCSC Ensembl
Outerchr12:105368694..105374137hg19UCSC Ensembl
Innerchr12:103893610..103896001hg18UCSC Ensembl
Outerchr12:103892824..103898267hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg385444
hg195444
hg185444
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv14n50
Supporting Variantsnssv626119
Samples1
Known Genes
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511501
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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