A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8681



Internal ID5110762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:63656557..64431289hg19UCSC Ensembl
Outerchr10:63326563..64101295hg18UCSC Ensembl
Outerchr10:63326563..64101295hg17UCSC Ensembl
Cytoband10q21.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count6
Merged StatusM
Merged Variants
Supporting Variantsnssv17500, nssv19335, nssv19569
SamplesNA12802, NA12740, NA18537
Known GenesARID5B, RTKN2, ZNF365
Method
AnalysisCNV regions were defined on the basis of the union of all overlapping CNVs across all 30 HapMap individuals (An additional CNV region, that was not listed in the original published dataset, has been defined to represent variant 311 in sample NA18563).
PlatformAgilent-015685 + 015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry et al 2008
Pubmed ID18304495
Accession Number(s)nsv8681
Frequency
Sample Size31
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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