A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471522



Internal ID15212002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:586759..821403hg38UCSC Ensembl
Outerchr1:522139..756783hg19UCSC Ensembl
Outerchr1:512002..746646hg18UCSC Ensembl
Outerchr1:562002..796646hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38234645
hg19234645
hg18234645
hg17234645
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv547899, nssv547898, nssv547897
SamplesNA18507, YH, JDW
Known GenesFAM87B, LOC100133331, LOC100288069, MIR6723, OR4F16, OR4F29, OR4F3
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
CommentsOR4F29
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471522
Frequency
Sample Size3
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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