A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471485



Internal ID15558651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:144178592..144377286hg38UCSC Ensembl
Outerchr7:143875685..144074379hg19UCSC Ensembl
Outerchr7:143506618..143705312hg18UCSC Ensembl
Outerchr7:143313333..143512027hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38198695
hg19198695
hg18198695
hg17198695
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv24n31
Supporting Variantsnssv547805, nssv547803, nssv547804
SamplesNA18507, YH, JDW
Known GenesARHGEF34P, ARHGEF35, ARHGEF5, CTAGE4, CTAGE8, OR2A1, OR2A20P, OR2A42, OR2A7, OR2A9P, RNU6-57P
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
CommentsFLJ43692
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471485
Frequency
Sample Size3
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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