A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12450



Internal ID15497294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13263370..13300836hg38UCSC Ensembl
Outerchr1:13262881..13301595hg38UCSC Ensembl
Innerchr1:13368992..13406432hg19UCSC Ensembl
Outerchr1:13368503..13407191hg19UCSC Ensembl
Innerchr1:13241579..13279019hg18UCSC Ensembl
Outerchr1:13241090..13279778hg18UCSC Ensembl
Innerchr1:13114298..13151738hg17UCSC Ensembl
Outerchr1:13113809..13152497hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3838715
hg1938689
hg1838689
hg1738689
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA19221
Known GenesPRAMEF23, PRAMEF5, PRAMEF6, 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)nssv12450
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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