A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511140



Internal ID15850565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:232323636..232324372hg38UCSC Ensembl
Outerchr1:232321439..232325431hg38UCSC Ensembl
Innerchr1:232459382..232460118hg19UCSC Ensembl
Outerchr1:232457185..232461177hg19UCSC Ensembl
Innerchr1:230526005..230526741hg18UCSC Ensembl
Outerchr1:230523808..230527800hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg383993
hg193993
hg183993
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625154
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)nsv511140
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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