A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511190



Internal ID15850615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:177973794..177978075hg38UCSC Ensembl
Outerchr2:177973464..177978479hg38UCSC Ensembl
Innerchr2:178838521..178842802hg19UCSC Ensembl
Outerchr2:178838191..178843206hg19UCSC Ensembl
Innerchr2:178546767..178551048hg18UCSC Ensembl
Outerchr2:178546437..178551452hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg385016
hg195016
hg185016
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626443
Samples1
Known GenesPDE11A
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511190
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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