A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13680



Internal ID15843559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:3436955..3465611hg38UCSC Ensembl
Outerchr4:3435807..3466598hg38UCSC Ensembl
Innerchr4:3438682..3467338hg19UCSC Ensembl
Outerchr4:3437534..3468325hg19UCSC Ensembl
Innerchr4:3408480..3437136hg18UCSC Ensembl
Outerchr4:3407332..3438123hg18UCSC Ensembl
Innerchr4:3475651..3504307hg17UCSC Ensembl
Outerchr4:3474503..3505294hg17UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg3830792
hg1930792
hg1830792
hg1730792
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10424
Supporting Variants
SamplesNA19221
Known GenesDOK7, HGFAC, RGS12
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)nssv13680
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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