A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8940



Internal ID15846852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:31746970..31834429hg38UCSC Ensembl
Outerchr12:31899904..31987363hg19UCSC Ensembl
Outerchr12:31791171..31878630hg18UCSC Ensembl
Outerchr12:31791171..31878630hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3887460
hg1987460
hg1887460
hg1787460
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv22925, nssv19192, nssv20286, nssv18965, nssv19592
SamplesNA07029, NA18504, NA18942, NA10847, NA10863
Known GenesH3F3C
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)nsv8940
Frequency
Sample Size31
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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