A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16304



Internal ID15834037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:26904151..26976725hg38UCSC Ensembl
Outerchr6:26902053..26977786hg38UCSC Ensembl
Innerchr6:26871930..26944504hg19UCSC Ensembl
Outerchr6:26869832..26945565hg19UCSC Ensembl
Innerchr6:26979909..27052483hg18UCSC Ensembl
Outerchr6:26977811..27053544hg18UCSC Ensembl
Innerchr6:26979909..27052483hg17UCSC Ensembl
Outerchr6:26977811..27053544hg17UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3875734
hg1975734
hg1875734
hg1775734
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10806
Supporting Variants
SamplesNA18517
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)nssv16304
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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