A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12121



Internal ID15497809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13486062..13490542hg19UCSC Ensembl
Outerchr1:13483052..13491310hg19UCSC Ensembl
Innerchr1:13358649..13363129hg18UCSC Ensembl
Outerchr1:13355639..13363897hg18UCSC Ensembl
Innerchr1:13231368..13235848hg17UCSC Ensembl
Outerchr1:13228358..13236616hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg198259
hg188259
hg178259
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA19240
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)nssv12121
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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