A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13813



Internal ID15833704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:131748675..131758597hg38UCSC Ensembl
Outerchr4:131748386..131760788hg38UCSC Ensembl
Innerchr4:132669830..132679752hg19UCSC Ensembl
Outerchr4:132669541..132681943hg19UCSC Ensembl
Innerchr4:132889280..132899202hg18UCSC Ensembl
Outerchr4:132888991..132901393hg18UCSC Ensembl
Innerchr4:133027435..133037357hg17UCSC Ensembl
Outerchr4:133027146..133039548hg17UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3812403
hg1912403
hg1812403
hg1712403
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10568
Supporting Variants
SamplesNA18504
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)nssv13813
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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