A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28712



Internal ID15839859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:50562691..50607301hg38UCSC Ensembl
Outerchr2:50559192..50608473hg38UCSC Ensembl
Innerchr2:50789829..50834439hg19UCSC Ensembl
Outerchr2:50786330..50835611hg19UCSC Ensembl
Innerchr2:50643333..50687943hg18UCSC Ensembl
Outerchr2:50639834..50689115hg18UCSC Ensembl
Innerchr2:50701480..50746090hg17UCSC Ensembl
Outerchr2:50697981..50747262hg17UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3849282
hg1949282
hg1849282
hg1749282
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9724
Supporting Variants
SamplesNA18972
Known GenesNRXN1
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)nssv28712
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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