A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14646



Internal ID15829589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:26904151..27002056hg38UCSC Ensembl
Outerchr6:26902053..27002785hg38UCSC Ensembl
Innerchr6:26871930..26969835hg19UCSC Ensembl
Outerchr6:26869832..26970564hg19UCSC Ensembl
Innerchr6:26979909..27077814hg18UCSC Ensembl
Outerchr6:26977811..27078543hg18UCSC Ensembl
Innerchr6:26979909..27077814hg17UCSC Ensembl
Outerchr6:26977811..27078543hg17UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38100733
hg19100733
hg18100733
hg17100733
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10806
Supporting Variants
SamplesNA10863
Known GenesGUSBP2, LINC00240
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)nssv14646
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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