A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511224



Internal ID15850649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:131989508..131994482hg38UCSC Ensembl
Outerchr3:131977259..131994722hg38UCSC Ensembl
Innerchr3:131708352..131713326hg19UCSC Ensembl
Outerchr3:131696103..131713566hg19UCSC Ensembl
Innerchr3:133191042..133196016hg18UCSC Ensembl
Outerchr3:133178793..133196256hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3817464
hg1917464
hg1817464
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624389
Samples1
Known GenesCPNE4, MIR5704
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511224
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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