A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12802



Internal ID15838778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:58008216..58016872hg38UCSC Ensembl
Outerchr5:57981656..58017883hg38UCSC Ensembl
Innerchr5:57304043..57312699hg19UCSC Ensembl
Outerchr5:57277483..57313710hg19UCSC Ensembl
Innerchr5:57339800..57348456hg18UCSC Ensembl
Outerchr5:57313240..57349467hg18UCSC Ensembl
Innerchr5:57339800..57348456hg17UCSC Ensembl
Outerchr5:57313240..57349467hg17UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3836228
hg1936228
hg1836228
hg1736228
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10700
Supporting Variants
SamplesNA18942
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)nssv12802
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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