A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469773



Internal ID15187802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:63845428..64039312hg38UCSC Ensembl
Innerchr20:62476781..62670665hg19UCSC Ensembl
Innerchr20:61947225..62141109hg18UCSC Ensembl
Innerchr20:63203129..63397013hg16UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38193885
hg19193885
hg18193885
hg16193885
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1672937, nssv1674187, nssv1674851
Samples
Known GenesABHD16B, DNAJC5, LINC00176, MIR1914, MIR647, MIR941-1, MIR941-2, MIR941-3, MIR941-4, PRPF6, SAMD10, TPD52L2, UCKL1, UCKL1-AS1, ZNF512B
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)nsv469773
Frequency
Sample Size265
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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