A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471443



Internal ID15558609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:32014795..32035417hg38UCSC Ensembl
Outerchr6:31982572..32003194hg19UCSC Ensembl
Outerchr6:32090550..32111173hg18UCSC Ensembl
Outerchr6:32090550..32111173hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3820623
hg1920623
hg1820624
hg1720624
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv548292, nssv548291, nssv548290
SamplesNA18507, YH, JDW
Known GenesC4A, C4B, C4B_2
MethodSequencing
AnalysisUsing absolute estimates of copy number, we calculated an in silico log2 ratio for each of the three genome-wide comparisons and compared it with the experimental values determined by array CGH.
PlatformIllumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen
CommentsC4A
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471443
Frequency
Sample Size3
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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