A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26878



Internal ID15482283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12786801..13382061hg38UCSC Ensembl
Outerchr1:12786012..13382061hg38UCSC Ensembl
Innerchr1:12846944..13516207hg19UCSC Ensembl
Outerchr1:12846155..13517097hg19UCSC Ensembl
Innerchr1:12769531..13388794hg18UCSC Ensembl
Outerchr1:12768742..13389684hg18UCSC Ensembl
Innerchr1:12781210..13261513hg17UCSC Ensembl
Outerchr1:12780421..13262403hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38596050
hg19670943
hg18620943
hg17481983
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA10847
Known GenesHNRNPCL1, HNRNPCP5, LOC649330, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF13, PRAMEF15, PRAMEF16, PRAMEF18, PRAMEF19, PRAMEF2, PRAMEF20, PRAMEF22, PRAMEF23, PRAMEF3, PRAMEF4, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8, PRAMEF9
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)nssv26878
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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