A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8907



Internal ID15846819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:9412066..9422617hg38UCSC Ensembl
Outerchr12:9564662..9575213hg19UCSC Ensembl
Outerchr12:9455929..9466480hg18UCSC Ensembl
Outerchr12:9455929..9466480hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3810552
hg1910552
hg1810552
hg1710552
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv23320
SamplesNA18502
Known GenesDDX12P
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)nsv8907
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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