A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469521



Internal ID15534236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7393671..7496999hg38UCSC Ensembl
Innerchr8:7251193..7354521hg19UCSC Ensembl
Innerchr8:7238603..7341931hg18UCSC Ensembl
Innerchr8:7238603..7341931hg16UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38103329
hg19103329
hg18103329
hg16103329
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1675301, nssv1675449, nssv1674803, nssv1672855, nssv1672666, nssv1673479, nssv1673186, nssv1672188, nssv1673310, nssv1676266, nssv1676655, nssv1674457, nssv1676270, nssv1673927, nssv1673104, nssv1673545, nssv1675871, nssv1672345, nssv1673212, nssv1673248, nssv1676177, nssv1675884, nssv1672889, nssv1673653, nssv1675757, nssv1674629, nssv1675844, nssv1676669, nssv1673008, nssv1675394, nssv1672841, nssv1675662, nssv1674333, nssv1673804, nssv1673329, nssv1672457, nssv1672540, nssv1673426, nssv1672629, nssv1672785, nssv1674711, nssv1672095, nssv1672461, nssv1676332, nssv1674926, nssv1673998, nssv1673503, nssv1676403, nssv1676553, nssv1674852
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, SPAG11B
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)nsv469521
Frequency
Sample Size265
Observed Gain8
Observed Loss42
Observed Complex0
Frequencyn/a


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