A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8681



Internal ID8813575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:61896798..62671529hg38UCSC Ensembl
Outerchr10:63656557..64431289hg19UCSC Ensembl
Outerchr10:63326563..64101295hg18UCSC Ensembl
Outerchr10:63326563..64101295hg17UCSC Ensembl
Cytoband10q21.2
Allele length
AssemblyAllele length
hg38774732
hg19774733
hg18774733
hg17774733
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17500, nssv19335, nssv19569
SamplesNA12802, NA12740, NA18537
Known GenesARID5B, LOC283045, MIR548AV, RTKN2, ZNF365
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-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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