A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13017



Internal ID15841679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:29225175..29229021hg38UCSC Ensembl
Outerchr4:29224761..29236464hg38UCSC Ensembl
Innerchr4:29226797..29230643hg19UCSC Ensembl
Outerchr4:29226383..29238086hg19UCSC Ensembl
Innerchr4:28835895..28839741hg18UCSC Ensembl
Outerchr4:28835481..28847184hg18UCSC Ensembl
Innerchr4:28903066..28906912hg17UCSC Ensembl
Outerchr4:28902652..28914355hg17UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg3811704
hg1911704
hg1811704
hg1711704
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10471
Supporting Variants
SamplesNA19132
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)nssv13017
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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