A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv548292



Internal ID15558377
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 Number3
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471443
Supporting Variants
SamplesYH
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)nssv548292
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer