A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28959



Internal ID15486282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131220033..131227310hg38UCSC Ensembl
Outerchr2:131219188..131227820hg38UCSC Ensembl
Innerchr2:131977606..131984883hg19UCSC Ensembl
Outerchr2:131976761..131985393hg19UCSC Ensembl
Innerchr2:131694076..131701353hg18UCSC Ensembl
Outerchr2:131693231..131701863hg18UCSC Ensembl
Innerchr2:131811338..131818615hg17UCSC Ensembl
Outerchr2:131810493..131819125hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg388633
hg198633
hg188633
hg178633
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10180
Supporting Variants
SamplesNA18502
Known GenesPOTEE
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)nssv28959
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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