A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10175



Internal ID15498452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:130762563..130766308hg38UCSC Ensembl
Outerchr2:131520136..131523881hg19UCSC Ensembl
Outerchr2:131236606..131240351hg18UCSC Ensembl
Outerchr2:131353875..131357620hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg383746
hg193746
hg183746
hg173746
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv29036
SamplesNA19173
Known GenesAMER3
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)nsv10175
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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