A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12909



Internal ID15831543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:161273226..161282572hg38UCSC Ensembl
Outerchr4:161272380..161284228hg38UCSC Ensembl
Innerchr4:162194378..162203724hg19UCSC Ensembl
Outerchr4:162193532..162205380hg19UCSC Ensembl
Innerchr4:162413828..162423174hg18UCSC Ensembl
Outerchr4:162412982..162424830hg18UCSC Ensembl
Innerchr4:162551983..162561329hg17UCSC Ensembl
Outerchr4:162551137..162562985hg17UCSC Ensembl
Cytoband4q32.2
Allele length
AssemblyAllele length
hg3811849
hg1911849
hg1811849
hg1711849
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10600
Supporting Variants
SamplesNA12740
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)nssv12909
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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