A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511178



Internal ID15503917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32999538..33002120hg38UCSC Ensembl
Outerchr2:32997952..33003225hg38UCSC Ensembl
Innerchr2:33224605..33227187hg19UCSC Ensembl
Outerchr2:33223019..33228292hg19UCSC Ensembl
Innerchr2:33078109..33080691hg18UCSC Ensembl
Outerchr2:33076523..33081796hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg385274
hg195274
hg185274
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626310
Samples1
Known GenesLTBP1
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511178
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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