A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17167



Internal ID15483601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12111635..12111649hg38UCSC Ensembl
Outerchr8:12111353..12112821hg38UCSC Ensembl
Innerchr8:11969144..11969158hg19UCSC Ensembl
Outerchr8:11968862..11970330hg19UCSC Ensembl
Innerchr8:12006553..12006567hg18UCSC Ensembl
Outerchr8:12006271..12007739hg18UCSC Ensembl
Innerchr8:12006553..12006567hg17UCSC Ensembl
Outerchr8:12006271..12007739hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381469
hg191469
hg181469
hg171469
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8288
Supporting Variants
SamplesNA11830
Known GenesZNF705D
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)nssv17167
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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