A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471468



Internal ID15211948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:121564168..121598707hg38UCSC Ensembl
Outerchr9:124326447..124360986hg19UCSC Ensembl
Outerchr9:123366268..123400807hg18UCSC Ensembl
Outerchr9:121406001..121440540hg17UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg3834540
hg1934540
hg1834540
hg1734540
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv548366, nssv548365
SamplesNA18507, JDW
Known GenesDAB2IP
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
CommentsDAB2IP
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471468
Frequency
Sample Size3
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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