A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482177



Internal ID15234650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:34379071..34407687hg38UCSC Ensembl
Outerchr15:34671272..34699888hg19UCSC Ensembl
Outerchr15:32458564..32487180hg18UCSC Ensembl
Outerchr15:32458564..32487180hg17UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg3828617
hg1928617
hg1828617
hg1728617
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv558538
SamplesKB1
Known GenesGOLGA8A, MIR1233-1, MIR1233-2
MethodSequencing
AnalysisWe constructed duplication maps for the KB1 genome and estimated the absolute copy number of each duplication interval larger than 20 kb in length. Using absolute estimates of copy number, we calculated an in silico log2 ratio for each the KB1 genome and compared copy number predictions with previously published copy numbers detected in NA18507 and YH genomes.
PlatformIllumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen
CommentsGOLGA8A
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nsv482177
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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