A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9480



Internal ID15847392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:29418080..29422792hg38UCSC Ensembl
Outerchr2:29640946..29645658hg19UCSC Ensembl
Outerchr2:29494450..29499162hg18UCSC Ensembl
Outerchr2:29552597..29557309hg17UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg384713
hg194713
hg184713
hg174713
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv28109
SamplesNA19173
Known GenesALK
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)nsv9480
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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