A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9044



Internal ID15500270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:131683504..131763120hg38UCSC Ensembl
Outerchr12:132168049..132247665hg19UCSC Ensembl
Outerchr12:130734002..130813618hg18UCSC Ensembl
Outerchr12:130834279..130913895hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3879617
hg1979617
hg1879617
hg1779617
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv21345
SamplesNA18537
Known GenesSFSWAP
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)nsv9044
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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