A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471376



Internal ID15211856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:22869466..22917313hg38UCSC Ensembl
Outerchr15:22955755..23003602hg19UCSC Ensembl
Outerchr15:20507196..20555043hg18UCSC Ensembl
Outerchr15:20507196..20555043hg17UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg3847848
hg1947848
hg1847848
hg1747848
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv548106
SamplesNA18507
Known GenesCYFIP1
MethodSequencing
AnalysisUsing absolute estimates of copy number, we calculated an in silico log2 ratio for each of the three genome-wide comparisons and compared it with the experimental values determined by array CGH.
PlatformIllumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen
CommentsCYFIP1
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471376
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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