A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511388



Internal ID15850813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:65179929..65182223hg38UCSC Ensembl
Outerchr8:65179776..65182538hg38UCSC Ensembl
Innerchr8:66092164..66094458hg19UCSC Ensembl
Outerchr8:66092011..66094773hg19UCSC Ensembl
Innerchr8:66254718..66257012hg18UCSC Ensembl
Outerchr8:66254565..66257327hg18UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg382763
hg192763
hg182763
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv58n50
Supporting Variantsnssv625994
Samples1
Known GenesLINC00251
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511388
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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