A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469564



Internal ID15187593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7872467..8021906hg38UCSC Ensembl
Innerchr8:7729989..7879428hg19UCSC Ensembl
Innerchr8:7767399..7916838hg18UCSC Ensembl
Innerchr8:7767399..7916838hg16UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38149440
hg19149440
hg18149440
hg16149440
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv13n29
Supporting Variantsnssv1674277, nssv1674112, nssv1672276, nssv1672897, nssv1675632, nssv1672441, nssv1672896, nssv1675777, nssv1675598, nssv1674478, nssv1676377, nssv1673913, nssv1676290, nssv1675911, nssv1674565, nssv1672498, nssv1674804, nssv1676005, nssv1675047, nssv1673828, nssv1675834, nssv1675637, nssv1675395, nssv1672180, nssv1675543, nssv1676152, nssv1674031, nssv1674957, nssv1674761, nssv1674237, nssv1674999, nssv1672675, nssv1675549, nssv1675330, nssv1676062, nssv1675050, nssv1674145, nssv1675459, nssv1676358, nssv1674023, nssv1675480, nssv1672323, nssv1676012, nssv1675386, nssv1676342, nssv1675901, nssv1675484, nssv1672514, nssv1673323, nssv1673810, nssv1675323, nssv1676641, nssv1674010, nssv1676262, nssv1676127, nssv1675987, nssv1676449, nssv1672437, nssv1675452
Samples
Known GenesDEFB103A, DEFB103B, DEFB109P1B, 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)nsv469564
Frequency
Sample Size265
Observed Gain25
Observed Loss34
Observed Complex0
Frequencyn/a


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