A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14080



Internal ID15484997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16879739..16895419hg38UCSC Ensembl
Outerchr1:16879017..16896220hg38UCSC Ensembl
Innerchr1:17206234..17221914hg19UCSC Ensembl
Outerchr1:17205512..17222715hg19UCSC Ensembl
Innerchr1:17078821..17094501hg18UCSC Ensembl
Outerchr1:17078099..17095302hg18UCSC Ensembl
Innerchr1:16951540..16967220hg17UCSC Ensembl
Outerchr1:16950818..16968021hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3817204
hg1917204
hg1817204
hg1717204
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9324
Supporting Variants
SamplesNA12802
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)nssv14080
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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