A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28547



Internal ID15489752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12887021..12933550hg38UCSC Ensembl
Outerchr1:12886914..12933943hg38UCSC Ensembl
Innerchr1:12946845..12993380hg19UCSC Ensembl
Outerchr1:12946738..12993773hg19UCSC Ensembl
Innerchr1:12869432..12915967hg18UCSC Ensembl
Outerchr1:12869325..12916360hg18UCSC Ensembl
Innerchr1:12881111..12927646hg17UCSC Ensembl
Outerchr1:12881004..12928039hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3847030
hg1947036
hg1847036
hg1747036
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA18564
Known GenesPRAMEF10, PRAMEF7, 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)nssv28547
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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