A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471385



Internal ID15211865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:14974976..15037695hg38UCSC Ensembl
Outerchr16:15068833..15131552hg19UCSC Ensembl
Outerchr16:14976334..15039053hg18UCSC Ensembl
Outerchr16:14976334..15039053hg17UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3862720
hg1962720
hg1862720
hg1762720
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11n31
Supporting Variantsnssv548126, nssv548128, nssv548127
SamplesNA18507, YH, JDW
Known GenesMIR1972-1, MIR1972-2, PDXDC1
MethodSequencing
AnalysisUsing absolute estimates of copy number, we calculated an in silico log2 ratio for each of the three genome-wide comparisons and compared it with the experimental values determined by array CGH.
PlatformIllumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen
CommentsPDXDC1
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471385
Frequency
Sample Size3
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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