A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471541



Internal ID15212021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:31990245..32046126hg38UCSC Ensembl
Outerchr6:31958022..32013903hg19UCSC Ensembl
Outerchr6:32066001..32121881hg18UCSC Ensembl
Outerchr6:32066001..32121881hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3855882
hg1955882
hg1855881
hg1755881
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv20n31
Supporting Variantsnssv547967, nssv547978, nssv547956
SamplesNA18507, YH, JDW
Known GenesC4A, C4B, C4B_2, CYP21A1P, CYP21A2, STK19, TNXA, TNXB
MethodSequencing
AnalysisWe constructed duplication maps for each of the three genomes and estimated the absolute copy number of each duplication interval larger than 20 kb in length. We considered a given segment to be duplicated within an individual if the median estimated copy number for that individual was >2.5.
PlatformIllumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen
CommentsC4A
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471541
Frequency
Sample Size3
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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