A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469625



Internal ID15534340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:26925960..27070396hg38UCSC Ensembl
Innerchr6:26893739..27038175hg19UCSC Ensembl
Innerchr6:27001718..27146154hg18UCSC Ensembl
Innerchr6:27001718..27146154hg16UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38144437
hg19144437
hg18144437
hg16144437
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1672993, nssv1673512, nssv1673041, nssv1672427, nssv1675171, nssv1673937, nssv1674497, nssv1675845, nssv1672559, nssv1676197, nssv1674400, nssv1673750, nssv1674938, nssv1676362, nssv1675316, nssv1674828, nssv1676227
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)nsv469625
Frequency
Sample Size265
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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