A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511393



Internal ID15504132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:25216199..25216845hg38UCSC Ensembl
Outerchr8:25214226..25222308hg38UCSC Ensembl
Innerchr8:25073715..25074361hg19UCSC Ensembl
Outerchr8:25071742..25079824hg19UCSC Ensembl
Innerchr8:25129632..25130278hg18UCSC Ensembl
Outerchr8:25127659..25135741hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg388083
hg198083
hg188083
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626000
Samples1
Known GenesDOCK5
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511393
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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