A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21345



Internal ID15488466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:131683936..131762500hg38UCSC Ensembl
Outerchr12:131683504..131763120hg38UCSC Ensembl
Innerchr12:132168481..132247045hg19UCSC Ensembl
Outerchr12:132168049..132247665hg19UCSC Ensembl
Innerchr12:130734434..130812998hg18UCSC Ensembl
Outerchr12:130734002..130813618hg18UCSC Ensembl
Innerchr12:130834711..130913275hg17UCSC 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 StatusS
Merged Variantsnsv9044
Supporting Variants
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)nssv21345
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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