A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469878



Internal ID15534593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:21097749..21270796hg38UCSC Ensembl
Innerchr8:20955260..21128307hg19UCSC Ensembl
Innerchr8:20999540..21172587hg18UCSC Ensembl
Innerchr8:20965533..21138580hg16UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38173048
hg19173048
hg18173048
hg16173048
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1673144, nssv1675036, nssv1673886, nssv1673269, nssv1674768, nssv1675962, nssv1673475, nssv1673013
Samples
Known Genes
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)nsv469878
Frequency
Sample Size265
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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