A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469844



Internal ID15187873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23924055..24103952hg38UCSC Ensembl
Innerchr22:24266242..24499915hg19UCSC Ensembl
Innerchr22:22596242..22829915hg18UCSC Ensembl
Innerchr22:22590796..22824469hg16UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38179898
hg19233674
hg18233674
hg16233674
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1672800
Samples
Known GenesCABIN1, DDT, DDTL, GSTT1, GSTT2, GSTT2B, GSTTP1, GSTTP2, LOC391322
MethodBAC aCGH
AnalysisA locus was considered a CNV if the log ratio of fluorescence measurements for the individuals assayed exceeded twice the SD of the autosomal clones in both dye-swapped experiments.
PlatformGPL4010
Comments
ReferenceLocke_et_al_2006
Pubmed ID16826518
Accession Number(s)nsv469844
Frequency
Sample Size265
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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