A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469838



Internal ID15534553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:120507725..120634893hg38UCSC Ensembl
Innerchr1:144869935..145009137hg19UCSC Ensembl
Innerchr1:143581292..143720494hg18UCSC Ensembl
Innerchr1:142622757..142761959hg16UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38127169
hg19139203
hg18139203
hg16139203
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1674174
Samples
Known GenesLOC100288142, NBPF12, NBPF9, PDE4DIP
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)nsv469838
Frequency
Sample Size265
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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