A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12754



Internal ID15481837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12899891..12936866hg38UCSC Ensembl
Outerchr1:12899168..12937208hg38UCSC Ensembl
Innerchr1:12959722..12996696hg19UCSC Ensembl
Outerchr1:12958999..12997038hg19UCSC Ensembl
Innerchr1:12882309..12919283hg18UCSC Ensembl
Outerchr1:12881586..12919625hg18UCSC Ensembl
Innerchr1:12893988..12930962hg17UCSC Ensembl
Outerchr1:12893265..12931304hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3838041
hg1938040
hg1838040
hg1738040
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA10839
Known GenesPRAMEF7, PRAMEF8
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)nssv12754
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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