A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv29126



Internal ID15496436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131308655..131316732hg38UCSC Ensembl
Outerchr2:131308068..131317098hg38UCSC Ensembl
Innerchr2:132066228..132074305hg19UCSC Ensembl
Outerchr2:132065641..132074671hg19UCSC Ensembl
Innerchr2:131782698..131790775hg18UCSC Ensembl
Outerchr2:131782111..131791141hg18UCSC Ensembl
Innerchr2:131899960..131908037hg17UCSC Ensembl
Outerchr2:131899373..131908403hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg389031
hg199031
hg189031
hg179031
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10180
Supporting Variants
SamplesNA19173
Known Genes
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)nssv29126
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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