A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1675462



Internal ID15186284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23401453..23548569hg38UCSC Ensembl
Innerchr22:23743640..23890756hg19UCSC Ensembl
Innerchr22:22073640..22220756hg18UCSC Ensembl
Innerchr22:22068194..22215310hg16UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38147117
hg19147117
hg18147117
hg16147117
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469702
Supporting Variants
Samples
Known GenesZDHHC8P1
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)nssv1675462
Frequency
Sample Size265
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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