A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511320



Internal ID15850745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:68520338..68532128hg38UCSC Ensembl
Outerchr6:68504610..68539236hg38UCSC Ensembl
Innerchr6:69230230..69242020hg19UCSC Ensembl
Outerchr6:69214502..69249128hg19UCSC Ensembl
Innerchr6:69286951..69298741hg18UCSC Ensembl
Outerchr6:69271223..69305849hg18UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg3834627
hg1934627
hg1834627
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625454
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)nsv511320
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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