A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469675



Internal ID15187704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:26881171..27047819hg38UCSC Ensembl
Innerchr6:26848950..27015598hg19UCSC Ensembl
Innerchr6:26956929..27123577hg18UCSC Ensembl
Innerchr6:26956929..27123577hg16UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38166649
hg19166649
hg18166649
hg16166649
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10n29
Supporting Variantsnssv1676215, nssv1673324, nssv1676287, nssv1674490, nssv1675364, nssv1675208, nssv1673132, nssv1676404, nssv1672887, nssv1672141, nssv1672500, nssv1675659, nssv1675803, nssv1673743, nssv1676536, nssv1672836, nssv1674166, nssv1676498, nssv1673802, nssv1673258, nssv1674173, nssv1672607, nssv1672691, nssv1674626
Samples
Known GenesGUSBP2, LINC00240, LOC100270746
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)nsv469675
Frequency
Sample Size265
Observed Gain24
Observed Loss0
Observed Complex0
Frequencyn/a


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