A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv547996



Internal ID15558154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:22960463..23067431hg38UCSC Ensembl
Outerchr15:22805637..22912605hg19UCSC Ensembl
Outerchr15:20357001..20464046hg18UCSC Ensembl
Outerchr15:20357001..20464046hg17UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38106969
hg19106969
hg18107046
hg17107046
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471333
Supporting Variants
SamplesNA18507
Known GenesCYFIP1, TUBGCP5
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
CommentsTUBGCP5
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nssv547996
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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