A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471538



Internal ID15558704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:202463216..202559751hg38UCSC Ensembl
Outerchr1:202432344..202528879hg19UCSC Ensembl
Outerchr1:200698967..200795502hg18UCSC Ensembl
Outerchr1:199164001..199260536hg17UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3896536
hg1996536
hg1896536
hg1796536
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv547948, nssv547946, nssv547947
SamplesNA18507, YH, JDW
Known GenesPPP1R12B
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
CommentsPPP1R12B
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471538
Frequency
Sample Size3
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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