A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482115



Internal ID15234588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:143381267..143391109hg38UCSC Ensembl
Outerchr7:143078360..143088202hg19UCSC Ensembl
Outerchr7:142788482..142798324hg18UCSC Ensembl
Outerchr7:142595197..142605039hg17UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg389843
hg199843
hg189843
hg179843
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv558476
SamplesKB1
Known GenesMIR6892, ZYX
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
CommentsZYX
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nsv482115
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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