A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14380



Internal ID15485009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:43991832..43997160hg38UCSC Ensembl
Outerchr7:43991338..43997520hg38UCSC Ensembl
Innerchr7:44031431..44036759hg19UCSC Ensembl
Outerchr7:44030937..44037119hg19UCSC Ensembl
Innerchr7:43997956..44003284hg18UCSC Ensembl
Outerchr7:43997462..44003644hg18UCSC Ensembl
Innerchr7:43804671..43809999hg17UCSC Ensembl
Outerchr7:43804177..43810359hg17UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg386183
hg196183
hg186183
hg176183
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8082
Supporting Variants
SamplesNA12802
Known GenesPOLR2J4
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)nssv14380
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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