A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512056



Internal ID15851481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:94712616..94716215hg38UCSC Ensembl
Outerchr8:95724844..95728443hg19UCSC Ensembl
Outerchr8:95794020..95797619hg18UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg383600
hg193600
hg183600
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624608
Samples1
Known Genes
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512056
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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