A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12454



Internal ID15828461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:102858370..102862414hg38UCSC Ensembl
Outerchr4:102857289..102864482hg38UCSC Ensembl
Innerchr4:103779527..103783571hg19UCSC Ensembl
Outerchr4:103778446..103785639hg19UCSC Ensembl
Innerchr4:103998627..104002660hg18UCSC Ensembl
Outerchr4:103997546..104005075hg18UCSC Ensembl
Innerchr4:104136782..104140815hg17UCSC Ensembl
Outerchr4:104135701..104143230hg17UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg387194
hg197194
hg187530
hg177530
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10541
Supporting Variants
SamplesNA10839
Known GenesUBE2D3
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)nssv12454
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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