A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20572



Internal ID15492187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:34390365..34573651hg38UCSC Ensembl
Outerchr15:34389570..34574190hg38UCSC Ensembl
Innerchr15:34682566..34865852hg19UCSC Ensembl
Outerchr15:34681771..34866391hg19UCSC Ensembl
Innerchr15:32469858..32653144hg18UCSC Ensembl
Outerchr15:32469063..32653683hg18UCSC Ensembl
Innerchr15:32469858..32653144hg17UCSC Ensembl
Outerchr15:32469063..32653683hg17UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38184621
hg19184621
hg18184621
hg17184621
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9241
Supporting Variants
SamplesNA18942
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)nssv20572
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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