A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10401



Internal ID15845364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:197607246..197667677hg38UCSC Ensembl
Outerchr3:197334117..197394548hg19UCSC Ensembl
Outerchr3:198818514..198878945hg18UCSC Ensembl
Outerchr3:198822427..198882858hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3860432
hg1960432
hg1860432
hg1760432
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv12657, nssv11535, nssv11979, nssv12793, nssv11536, nssv12644, nssv12627
SamplesNA18504, NA18537, NA19132, NA18517, NA12740, NA18552
Known GenesLOC220729
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)nsv10401
Frequency
Sample Size31
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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