A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469895



Internal ID8501592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:17346723..17562673hg38UCSC Ensembl
Innerchr11:17368270..17584220hg19UCSC Ensembl
Innerchr11:17324846..17540796hg18UCSC Ensembl
Innerchr11:17332579..17548529hg16UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38215951
hg19215951
hg18215951
hg16215951
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1673934, nssv1675071, nssv1676140, nssv1675561, nssv1676414, nssv1676518, nssv1676159, nssv1672610, nssv1672328, nssv1673385, nssv1674934, nssv1672475, nssv1674203, nssv1672206, nssv1675106, nssv1675968, nssv1675829, nssv1673434, nssv1675402
Samples
Known GenesABCC8, KCNJ11, NCR3LG1, OTOG, USH1C
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)nsv469895
Frequency
Sample Size265
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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