A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13433



Internal ID15492565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13225431..13245775hg38UCSC Ensembl
Outerchr1:13225431..13245814hg38UCSC Ensembl
Innerchr1:13330253..13351394hg19UCSC Ensembl
Outerchr1:13329881..13351433hg19UCSC Ensembl
Innerchr1:13202840..13223981hg18UCSC Ensembl
Outerchr1:13202468..13224020hg18UCSC Ensembl
Innerchr1:13075559..13096700hg17UCSC Ensembl
Outerchr1:13075187..13096739hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3820384
hg1921553
hg1821553
hg1721553
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA18972
Known GenesPRAMEF22, PRAMEF3
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)nssv13433
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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