A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv548127



Internal ID15211513
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 Number5
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471385
Supporting Variants
SamplesNA18507
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)nssv548127
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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