A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv547928



Internal ID15211676
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 Number4
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471532
Supporting Variants
SamplesYH
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)nssv547928
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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