A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12765



Internal ID15487927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13486062..13491310hg19UCSC Ensembl
Outerchr1:13483052..13491703hg19UCSC Ensembl
Innerchr1:13358649..13363897hg18UCSC Ensembl
Outerchr1:13355639..13364290hg18UCSC Ensembl
Innerchr1:13231368..13236616hg17UCSC Ensembl
Outerchr1:13228358..13237009hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg198652
hg188652
hg178652
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA18537
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)nssv12765
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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