A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10142



Internal ID15845105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:127098188..127101701hg38UCSC Ensembl
Outerchr2:127855764..127859277hg19UCSC Ensembl
Outerchr2:127572234..127575747hg18UCSC Ensembl
Outerchr2:127571994..127575507hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg383514
hg193514
hg183514
hg173514
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv28895
SamplesNA12155
Known GenesBIN1
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)nsv10142
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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