A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17017



Internal ID15483611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7950868..7950882hg38UCSC Ensembl
Outerchr8:7950586..7952054hg38UCSC Ensembl
Innerchr8:7808390..7808404hg19UCSC Ensembl
Outerchr8:7808108..7809576hg19UCSC Ensembl
Innerchr8:7845800..7845814hg18UCSC Ensembl
Outerchr8:7845518..7846986hg18UCSC Ensembl
Innerchr8:7845800..7845814hg17UCSC Ensembl
Outerchr8:7845518..7846986hg17UCSC 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 Variantsnsv8281
Supporting Variants
SamplesNA11830
Known GenesZNF705B
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)nssv17017
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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