A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv558421



Internal ID15581234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:232456123..232460032hg38UCSC Ensembl
Outerchr2:233320833..233324742hg19UCSC Ensembl
Outerchr2:233029077..233032986hg18UCSC Ensembl
Outerchr2:233146338..233150247hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg383910
hg193910
hg183910
hg173910
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv482060
Supporting Variants
SamplesKB1
Known GenesALPI
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
CommentsALPI
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nssv558421
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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