A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv548239



Internal ID15558060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:23971365..23979828hg38UCSC Ensembl
Outerchr22:24313554..24322019hg19UCSC Ensembl
Outerchr22:22643554..22652019hg18UCSC Ensembl
Outerchr22:22638108..22646573hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg388464
hg198466
hg188466
hg178466
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471423
Supporting Variants
SamplesJDW
Known GenesDDT, DDTL
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
CommentsDDT
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nssv548239
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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