A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14070



Internal ID15844047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:45003757..45008993hg38UCSC Ensembl
Outerchr4:45003459..45009599hg38UCSC Ensembl
Innerchr4:45005774..45011010hg19UCSC Ensembl
Outerchr4:45005476..45011616hg19UCSC Ensembl
Innerchr4:44700531..44705767hg18UCSC Ensembl
Outerchr4:44700233..44706373hg18UCSC Ensembl
Innerchr4:44846702..44851938hg17UCSC Ensembl
Outerchr4:44846404..44852544hg17UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg386141
hg196141
hg186141
hg176141
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10488
Supporting Variants
SamplesNA19221
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)nssv14070
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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