A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8970



Internal ID15500196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:40510292..40557411hg38UCSC Ensembl
Outerchr12:40904094..40951213hg19UCSC Ensembl
Outerchr12:39190361..39237480hg18UCSC Ensembl
Outerchr12:39190361..39237480hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3847120
hg1947120
hg1847120
hg1747120
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv20626
SamplesNA18552
Known GenesMUC19
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)nsv8970
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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