A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10386



Internal ID15498663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:196051865..196053396hg38UCSC Ensembl
Outerchr3:195778736..195780267hg19UCSC Ensembl
Outerchr3:197263133..197264664hg18UCSC Ensembl
Outerchr3:197267046..197268577hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg381532
hg191532
hg181532
hg171532
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv28982, nssv12209, nssv11540
SamplesNA19173, NA10847, NA18853
Known GenesTFRC
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)nsv10386
Frequency
Sample Size31
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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