A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12390



Internal ID15844005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241796991..241845142hg38UCSC Ensembl
Outerchr2:241796554..241845643hg38UCSC Ensembl
Innerchr2:242736406..242787294hg19UCSC Ensembl
Outerchr2:242735969..242787795hg19UCSC Ensembl
Innerchr2:242385079..242435967hg18UCSC Ensembl
Outerchr2:242384642..242436468hg18UCSC Ensembl
Innerchr2:242456396..242507284hg17UCSC Ensembl
Outerchr2:242455959..242507785hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3849090
hg1951827
hg1851827
hg1751827
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10232
Supporting Variants
SamplesNA19221
Known GenesGAL3ST2, NEU4
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)nssv12390
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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