A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv558562



Internal ID15234455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:16921950..16972979hg38UCSC Ensembl
Outerchr1:17248445..17299474hg19UCSC Ensembl
Outerchr1:17121032..17172061hg18UCSC Ensembl
Outerchr1:16993751..17044780hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3851030
hg1951030
hg1851030
hg1751030
Variant TypeCNV gain
Copy Number6
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv482201
Supporting Variants
SamplesKB1
Known GenesCROCC
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
CommentsCROCC
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nssv558562
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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