A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471338



Internal ID15211818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:76518033..77179463hg38UCSC Ensembl
Outerchr7:76147350..76808780hg19UCSC Ensembl
Outerchr7:75985286..76646716hg18UCSC Ensembl
Outerchr7:75792001..76453431hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38661431
hg19661431
hg18661431
hg17661431
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv22n31
Supporting Variantsnssv548034, nssv548045, nssv548023
SamplesNA18507, YH, JDW
Known GenesCCDC146, DTX2P1-UPK3BP1-PMS2P11, LOC100132832, LOC100133091, POMZP3, UPK3B
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
CommentsCCDC146
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471338
Frequency
Sample Size3
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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