A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7973



Internal ID15845885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:143635108..143638887hg38UCSC Ensembl
Outerchr6:143956245..143960024hg19UCSC Ensembl
Outerchr6:143997938..144001717hg18UCSC Ensembl
Outerchr6:143997938..144001717hg17UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg383780
hg193780
hg183780
hg173780
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14495, nssv14537, nssv14332
SamplesNA18563, NA18942, NA10847
Known GenesPHACTR2
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)nsv7973
Frequency
Sample Size31
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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