A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469641



Internal ID15187670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19891662..20067735hg38UCSC Ensembl
Innerchr22:19879185..20055258hg19UCSC Ensembl
Innerchr22:18259185..18435258hg18UCSC Ensembl
Innerchr22:18253739..18429812hg16UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38176074
hg19176074
hg18176074
hg16176074
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1674396, nssv1672736, nssv1674520, nssv1674958, nssv1672651, nssv1675269, nssv1675259, nssv1674952, nssv1673540, nssv1675699, nssv1675997, nssv1675109, nssv1672197, nssv1674848, nssv1672519, nssv1675825, nssv1675818, nssv1674231, nssv1674227, nssv1675981, nssv1675856
Samples
Known GenesARVCF, COMT, MIR185, MIR4761, TANGO2, TXNRD2
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)nsv469641
Frequency
Sample Size265
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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