A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469864



Internal ID15187893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7890404..8060046hg38UCSC Ensembl
Innerchr8:7747926..7917568hg19UCSC Ensembl
Innerchr8:7785336..7954978hg18UCSC Ensembl
Innerchr8:7785336..7954978hg16UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38169643
hg19169643
hg18169643
hg16169643
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv13n29
Supporting Variantsnssv1674596, nssv1672528, nssv1672471, nssv1672953, nssv1672314, nssv1676653, nssv1672802, nssv1673854, nssv1674216, nssv1674717, nssv1672643, nssv1673410, nssv1675356, nssv1676526, nssv1675612, nssv1675335, nssv1674281, nssv1675804, nssv1673253, nssv1673906, nssv1673726, nssv1676683, nssv1673322
Samples
Known GenesDEFB109P1B, DEFB4A, FAM66E, USP17L3, USP17L8, ZNF705B
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)nsv469864
Frequency
Sample Size265
Observed Gain4
Observed Loss19
Observed Complex0
Frequencyn/a


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