A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469672



Internal ID15534387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:21458097..21598881hg38UCSC Ensembl
Innerchr5:21458206..21598990hg19UCSC Ensembl
Innerchr5:21493963..21634747hg18UCSC Ensembl
Innerchr5:21503707..21644491hg16UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38140785
hg19140785
hg18140785
hg16140785
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8n29
Supporting Variantsnssv1672688, nssv1673392, nssv1673088, nssv1675315, nssv1676071, nssv1676320, nssv1673228, nssv1674223, nssv1673207, nssv1676268, nssv1674877
Samples
Known GenesGUSBP1
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)nsv469672
Frequency
Sample Size265
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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