A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv558461



Internal ID15234547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:1542235..1556430hg38UCSC Ensembl
Outerchr7:1581871..1596066hg19UCSC Ensembl
Outerchr7:1548397..1562592hg18UCSC Ensembl
Outerchr7:1355112..1369307hg17UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3814196
hg1914196
hg1814196
hg1714196
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv482100
Supporting Variants
SamplesKB1
Known GenesMAFK, TMEM184A
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
CommentsTMEM184A
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nssv558461
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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