A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12132



Internal ID15832871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:125954382..125955753hg38UCSC Ensembl
Outerchr3:125953849..125956197hg38UCSC Ensembl
Innerchr3:125673225..125674596hg19UCSC Ensembl
Outerchr3:125672692..125675040hg19UCSC Ensembl
Innerchr3:127155915..127157286hg18UCSC Ensembl
Outerchr3:127155382..127157730hg18UCSC Ensembl
Innerchr3:127155923..127157294hg17UCSC Ensembl
Outerchr3:127155390..127157738hg17UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg382349
hg192349
hg182349
hg172349
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10314
Supporting Variants
SamplesNA18502
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)nssv12132
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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