A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8514



Internal ID15846426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:64464798..64620145hg38UCSC Ensembl
Outerchr9:69477216..69632563hg19UCSC Ensembl
Outerchr9:68767036..68922383hg18UCSC Ensembl
Outerchr9:67380092..67535439hg17UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg38155348
hg19155348
hg18155348
hg17155348
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18723, nssv18797
SamplesNA18563, NA07048
Known Genes
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)nsv8514
Frequency
Sample Size31
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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