A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv558522



Internal ID15581093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:71787511..71801234hg38UCSC Ensembl
Outerchr11:71498557..71512280hg19UCSC Ensembl
Outerchr11:71176205..71189928hg18UCSC Ensembl
Outerchr11:71176205..71189928hg17UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3813724
hg1913724
hg1813724
hg1713724
Variant TypeCNV gain
Copy Number24
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv482161
Supporting Variants
SamplesKB1
Known GenesALG1L9P, FAM86C1
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
CommentsFAM86C
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nssv558522
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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