A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12093



Internal ID15481159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13309362..13311465hg38UCSC Ensembl
Outerchr1:13308717..13312146hg38UCSC Ensembl
Innerchr1:13414957..13417060hg19UCSC Ensembl
Outerchr1:13414312..13417741hg19UCSC Ensembl
Innerchr1:13287544..13289647hg18UCSC Ensembl
Outerchr1:13286899..13290328hg18UCSC Ensembl
Innerchr1:13160263..13162366hg17UCSC Ensembl
Outerchr1:13159618..13163047hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg383430
hg193430
hg183430
hg173430
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA07048
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)nssv12093
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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