A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28281



Internal ID15497600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45432330..45454279hg38UCSC Ensembl
Outerchr17:45431477..45456801hg38UCSC Ensembl
Innerchr17:43509696..43531645hg19UCSC Ensembl
Outerchr17:43508843..43534167hg19UCSC Ensembl
Innerchr17:40865479..40887428hg18UCSC Ensembl
Outerchr17:40864626..40889950hg18UCSC Ensembl
Innerchr17:40865479..40887428hg17UCSC Ensembl
Outerchr17:40864626..40889950hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3825325
hg1925325
hg1825325
hg1725325
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9562
Supporting Variants
SamplesNA19221
Known GenesARHGAP27, PLEKHM1
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)nssv28281
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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