A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12081



Internal ID15838348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:125954382..125956696hg38UCSC Ensembl
Outerchr3:125953849..125957968hg38UCSC Ensembl
Innerchr3:125673225..125675539hg19UCSC Ensembl
Outerchr3:125672692..125676811hg19UCSC Ensembl
Innerchr3:127155915..127158229hg18UCSC Ensembl
Outerchr3:127155382..127159501hg18UCSC Ensembl
Innerchr3:127155923..127158237hg17UCSC Ensembl
Outerchr3:127155390..127159509hg17UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg384120
hg194120
hg184120
hg174120
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10314
Supporting Variants
SamplesNA18860
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)nssv12081
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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