A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469709



Internal ID15187738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:26117172..26298328hg38UCSC Ensembl
Innerchr22:26513138..26694294hg19UCSC Ensembl
Innerchr22:24843138..25024294hg18UCSC Ensembl
Innerchr22:24837692..25018848hg16UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38181157
hg19181157
hg18181157
hg16181157
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1674193, nssv1672773, nssv1674118
Samples
Known GenesMIR1302-1, SEZ6L
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)nsv469709
Frequency
Sample Size265
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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