A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482048



Internal ID15234708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:103617377..103625771hg38UCSC Ensembl
Outerchr1:104159999..104168393hg19UCSC Ensembl
Outerchr1:103961522..103969916hg18UCSC Ensembl
Outerchr1:103872020..103880414hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg388395
hg198395
hg188395
hg178395
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv558409
SamplesKB1
Known GenesAMY2A
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
CommentsAMY2A
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nsv482048
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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