A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469543



Internal ID15534258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:47601794..47690128hg38UCSC Ensembl
Innerchr10:49000730..49087819hg19UCSC Ensembl
Innerchr10:48620736..48707825hg18UCSC Ensembl
Innerchr10:48395333..48482422hg16UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3888335
hg1987090
hg1887090
hg1687090
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1673404, nssv1673579, nssv1672981, nssv1672680, nssv1672831, nssv1673256, nssv1673395, nssv1674450, nssv1674865, nssv1674738, nssv1673078, nssv1674314, nssv1672551
Samples
Known Genes
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)nsv469543
Frequency
Sample Size265
Observed Gain11
Observed Loss2
Observed Complex0
Frequencyn/a


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