A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511232



Internal ID15503971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:46753036..46809120hg38UCSC Ensembl
Outerchr3:46748907..46811189hg38UCSC Ensembl
Innerchr3:46794526..46850610hg19UCSC Ensembl
Outerchr3:46790397..46852679hg19UCSC Ensembl
Innerchr3:46769530..46825614hg18UCSC Ensembl
Outerchr3:46765401..46827683hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3862283
hg1962283
hg1862283
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv31n50
Supporting Variantsnssv624477
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)nsv511232
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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