A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv558411



Internal ID15234497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:27149134..27152865hg38UCSC Ensembl
Outerchr2:27372002..27375733hg19UCSC Ensembl
Outerchr2:27225506..27229237hg18UCSC Ensembl
Outerchr2:27283653..27287384hg17UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg383732
hg193732
hg183732
hg173732
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv482050
Supporting Variants
SamplesKB1
Known GenesTCF23
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
CommentsTCF23
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nssv558411
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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