A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469627



Internal ID15534342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:4165751..4315260hg38UCSC Ensembl
Innerchr11:4186981..4336490hg19UCSC Ensembl
Innerchr11:4143557..4293066hg18UCSC Ensembl
Innerchr11:4151290..4300799hg16UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38149510
hg19149510
hg18149510
hg16149510
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1676430, nssv1675663, nssv1672200, nssv1674732, nssv1674739, nssv1672590, nssv1674200, nssv1674914, nssv1674162, nssv1673721, nssv1672809, nssv1676557, nssv1675902
Samples
Known GenesLOC100506082
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)nsv469627
Frequency
Sample Size265
Observed Gain4
Observed Loss9
Observed Complex0
Frequencyn/a


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