A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10051



Internal ID15498328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:31261438..31264322hg38UCSC Ensembl
Outerchr1:31734285..31737169hg19UCSC Ensembl
Outerchr1:31506872..31509756hg18UCSC Ensembl
Outerchr1:31403378..31406262hg17UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg382885
hg192885
hg182885
hg172885
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16093
SamplesNA18504
Known GenesSNRNP40
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)nsv10051
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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