A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv558486



Internal ID15234379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:152153595..152159228hg38UCSC Ensembl
Outerchr1:152126071..152131704hg19UCSC Ensembl
Outerchr1:150392695..150398328hg18UCSC Ensembl
Outerchr1:148939144..148944777hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg385634
hg195634
hg185634
hg175634
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv482125
Supporting Variants
SamplesKB1
Known GenesRPTN
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
CommentsRPTN
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nssv558486
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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