A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv558463



Internal ID15581179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:74773962..74789314hg38UCSC Ensembl
Outerchr7:74188309..74203658hg19UCSC Ensembl
Outerchr7:73826245..73841594hg18UCSC Ensembl
Outerchr7:73632960..73648309hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3815353
hg1915350
hg1815350
hg1715350
Variant TypeCNV gain
Copy Number6
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv482102
Supporting Variants
SamplesKB1
Known GenesNCF1
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
CommentsNCF1
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nssv558463
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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