A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12883



Internal ID15833385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:3563692..3565170hg38UCSC Ensembl
Outerchr4:3562318..3565983hg38UCSC Ensembl
Innerchr4:3565419..3566897hg19UCSC Ensembl
Outerchr4:3564045..3567710hg19UCSC Ensembl
Innerchr4:3535217..3536695hg18UCSC Ensembl
Outerchr4:3533843..3537508hg18UCSC Ensembl
Innerchr4:3602388..3603866hg17UCSC Ensembl
Outerchr4:3601014..3604679hg17UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg383666
hg193666
hg183666
hg173666
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10426
Supporting Variants
SamplesNA18504
Known Genes
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)nssv12883
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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