A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511507



Internal ID15850932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:48959432..48962569hg38UCSC Ensembl
Outerchr13:48958836..48966591hg38UCSC Ensembl
Innerchr13:49533568..49536705hg19UCSC Ensembl
Outerchr13:49532972..49540727hg19UCSC Ensembl
Innerchr13:48431569..48434706hg18UCSC Ensembl
Outerchr13:48430973..48438728hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg387756
hg197756
hg187756
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626126
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)nsv511507
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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