A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv558419



Internal ID15234505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:232406842..232410715hg38UCSC Ensembl
Outerchr2:233271552..233275425hg19UCSC Ensembl
Outerchr2:232979796..232983669hg18UCSC Ensembl
Outerchr2:233097057..233100930hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg383874
hg193874
hg183874
hg173874
Variant TypeCNV gain
Copy Number5
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv482058
Supporting Variants
SamplesKB1
Known GenesALPPL2
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
CommentsALPPL2
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nssv558419
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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