A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv558441



Internal ID15581157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:49683948..49688763hg38UCSC Ensembl
Outerchr3:49721381..49726196hg19UCSC Ensembl
Outerchr3:49696385..49701200hg18UCSC Ensembl
Outerchr3:49696385..49701200hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg384816
hg194816
hg184816
hg174816
Variant TypeCNV gain
Copy Number13
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv482080
Supporting Variants
SamplesKB1
Known GenesMST1
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
CommentsMST1
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nssv558441
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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