A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28485



Internal ID15841198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131683882..131720924hg38UCSC Ensembl
Outerchr2:131682567..131722860hg38UCSC Ensembl
Innerchr2:132441455..132478497hg19UCSC Ensembl
Outerchr2:132440140..132480433hg19UCSC Ensembl
Innerchr2:132157925..132194967hg18UCSC Ensembl
Outerchr2:132156610..132196903hg18UCSC Ensembl
Innerchr2:132275187..132312229hg17UCSC Ensembl
Outerchr2:132273872..132314165hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3840294
hg1940294
hg1840294
hg1740294
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10186
Supporting Variants
SamplesNA19007
Known GenesC2orf27A
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)nssv28485
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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