A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482095



Internal ID15234568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:41149606..41154332hg38UCSC Ensembl
Outerchr6:41117344..41122070hg19UCSC Ensembl
Outerchr6:41225322..41230048hg18UCSC Ensembl
Outerchr6:41225322..41230048hg17UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg384727
hg194727
hg184727
hg174727
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv558456
SamplesKB1
Known GenesTREML1
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
CommentsTREML1
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nsv482095
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer