A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11946



Internal ID15829656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:124026463..124026972hg38UCSC Ensembl
Outerchr4:124025827..124027475hg38UCSC Ensembl
Innerchr4:124947618..124948127hg19UCSC Ensembl
Outerchr4:124946982..124948630hg19UCSC Ensembl
Innerchr4:125167068..125167577hg18UCSC Ensembl
Outerchr4:125166432..125168080hg18UCSC Ensembl
Innerchr4:125305223..125305732hg17UCSC Ensembl
Outerchr4:125304587..125306235hg17UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg381649
hg191649
hg181649
hg171649
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10562
Supporting Variants
SamplesNA10863
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)nssv11946
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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