A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14303



Internal ID15839280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:144202815..144203562hg38UCSC Ensembl
Outerchr4:144202394..144204328hg38UCSC Ensembl
Innerchr4:145123968..145124715hg19UCSC Ensembl
Outerchr4:145123547..145125481hg19UCSC Ensembl
Innerchr4:145343418..145344165hg18UCSC Ensembl
Outerchr4:145342997..145344931hg18UCSC Ensembl
Innerchr4:145481573..145482320hg17UCSC Ensembl
Outerchr4:145481152..145483086hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg381935
hg191935
hg181935
hg171935
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10585
Supporting Variants
SamplesNA18972
Known Genes
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)nssv14303
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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