A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23943



Internal ID15839603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11355978..11400561hg38UCSC Ensembl
Outerchr12:11355474..11401059hg38UCSC Ensembl
Innerchr12:11508912..11553495hg19UCSC Ensembl
Outerchr12:11508408..11553993hg19UCSC Ensembl
Innerchr12:11400179..11444762hg18UCSC Ensembl
Outerchr12:11399675..11445260hg18UCSC Ensembl
Innerchr12:11400179..11444762hg17UCSC Ensembl
Outerchr12:11399675..11445260hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3845586
hg1945586
hg1845586
hg1745586
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8921
Supporting Variants
SamplesNA18972
Known GenesPRB1, PRB2
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)nssv23943
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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