A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23543



Internal ID15483899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:34389570..34576657hg38UCSC Ensembl
Outerchr15:34389028..34578112hg38UCSC Ensembl
Innerchr15:34681771..34868858hg19UCSC Ensembl
Outerchr15:34681229..34870313hg19UCSC Ensembl
Innerchr15:32469063..32656150hg18UCSC Ensembl
Outerchr15:32468521..32657605hg18UCSC Ensembl
Innerchr15:32469063..32656150hg17UCSC Ensembl
Outerchr15:32468521..32657605hg17UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38189085
hg19189085
hg18189085
hg17189085
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9241
Supporting Variants
SamplesNA12155
Known GenesGOLGA8A, GOLGA8B, MIR1233-1, MIR1233-2
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)nssv23543
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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