A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12487



Internal ID15829900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:184239291..184246974hg38UCSC Ensembl
Outerchr4:184238653..184250967hg38UCSC Ensembl
Innerchr4:185160444..185168127hg19UCSC Ensembl
Outerchr4:185159806..185172120hg19UCSC Ensembl
Innerchr4:185397438..185405121hg18UCSC Ensembl
Outerchr4:185396800..185409114hg18UCSC Ensembl
Innerchr4:185535593..185543276hg17UCSC Ensembl
Outerchr4:185534955..185547269hg17UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg3812315
hg1912315
hg1812315
hg1712315
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10623
Supporting Variants
SamplesNA11830
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)nssv12487
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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