A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12359



Internal ID15496299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:8621067..8638761hg38UCSC Ensembl
Outerchr4:8620789..8639554hg38UCSC Ensembl
Innerchr4:8622793..8640487hg19UCSC Ensembl
Outerchr4:8622515..8641280hg19UCSC Ensembl
Innerchr4:8673693..8691387hg18UCSC Ensembl
Outerchr4:8673415..8692180hg18UCSC Ensembl
Innerchr4:8740864..8758558hg17UCSC Ensembl
Outerchr4:8740586..8759351hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3818766
hg1918766
hg1818766
hg1718766
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10442
Supporting Variants
SamplesNA19173
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)nssv12359
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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