A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20745



Internal ID15488481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:151360862..151435229hg38UCSC Ensembl
Outerchr1:151357411..151437870hg38UCSC Ensembl
Innerchr1:151333338..151407705hg19UCSC Ensembl
Outerchr1:151329887..151410346hg19UCSC Ensembl
Innerchr1:149599962..149674329hg18UCSC Ensembl
Outerchr1:149596511..149676970hg18UCSC Ensembl
Innerchr1:148146411..148220778hg17UCSC Ensembl
Outerchr1:148142960..148223419hg17UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3880460
hg1980460
hg1880460
hg1780460
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8380
Supporting Variants
SamplesNA18537
Known GenesPOGZ, PSMB4, SELENBP1
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)nssv20745
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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