A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22130



Internal ID15490730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:34382925..34574672hg38UCSC Ensembl
Outerchr15:34382032..34576048hg38UCSC Ensembl
Innerchr15:34675126..34866873hg19UCSC Ensembl
Outerchr15:34674233..34868249hg19UCSC Ensembl
Innerchr15:32462418..32654165hg18UCSC Ensembl
Outerchr15:32461525..32655541hg18UCSC Ensembl
Innerchr15:32462418..32654165hg17UCSC Ensembl
Outerchr15:32461525..32655541hg17UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38194017
hg19194017
hg18194017
hg17194017
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9241
Supporting Variants
SamplesNA18853
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)nssv22130
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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