A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv558446



Internal ID15581162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:198152366..198180857hg38UCSC Ensembl
Outerchr3:197879237..197907728hg19UCSC Ensembl
Outerchr3:199363634..199392125hg18UCSC Ensembl
Outerchr3:199367547..199396038hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3828492
hg1928492
hg1828492
hg1728492
Variant TypeCNV gain
Copy Number13
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv482085
Supporting Variants
SamplesKB1
Known GenesFAM157A
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
CommentsFAM157A
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nssv558446
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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