A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471532



Internal ID15212012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:14965462..15033748hg38UCSC Ensembl
Outerchr16:15059319..15127605hg19UCSC Ensembl
Outerchr16:14966820..15035106hg18UCSC Ensembl
Outerchr16:14966820..15035106hg17UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3868287
hg1968287
hg1868287
hg1768287
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11n31
Supporting Variantsnssv547927, nssv547928, nssv547926
SamplesNA18507, YH, JDW
Known GenesMIR1972-1, MIR1972-2, PDXDC1
MethodSequencing
AnalysisWe constructed duplication maps for each of the three genomes and estimated the absolute copy number of each duplication interval larger than 20 kb in length. We considered a given segment to be duplicated within an individual if the median estimated copy number for that individual was >2.5.
PlatformIllumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen
CommentsPDXDC1
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471532
Frequency
Sample Size3
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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