A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13414



Internal ID15481976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13231173..13241766hg38UCSC Ensembl
Outerchr1:13230829..13243859hg38UCSC Ensembl
Innerchr1:13336748..13347389hg19UCSC Ensembl
Outerchr1:13336405..13349482hg19UCSC Ensembl
Innerchr1:13209335..13219976hg18UCSC Ensembl
Outerchr1:13208992..13222069hg18UCSC Ensembl
Innerchr1:13082054..13092695hg17UCSC Ensembl
Outerchr1:13081711..13094788hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3813031
hg1913078
hg1813078
hg1713078
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA10839
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)nssv13414
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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