A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469622



Internal ID15534337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25329652..25483559hg38UCSC Ensembl
Innerchr22:25725619..25879526hg19UCSC Ensembl
Innerchr22:24055619..24209526hg18UCSC Ensembl
Innerchr22:24050173..24204080hg16UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38153908
hg19153908
hg18153908
hg16153908
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1675929, nssv1672531, nssv1674988, nssv1674484, nssv1675504, nssv1674673, nssv1673592, nssv1674044, nssv1673870, nssv1673176
Samples
Known GenesCRYBB2P1, LRP5L, MIR6817
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)nsv469622
Frequency
Sample Size265
Observed Gain6
Observed Loss4
Observed Complex0
Frequencyn/a


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