A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469643



Internal ID15187672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10346944..10510487hg38UCSC Ensembl
Innerchr21:11001970..11165513hg19UCSC Ensembl
Innerchr21:10023841..10187384hg18UCSC Ensembl
Innerchr21:10024277..10187384hg16UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg38163544
hg19163544
hg18163544
hg16163108
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1672242, nssv1675274
Samples
Known GenesBAGE, BAGE2, BAGE3, BAGE4, BAGE5
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)nsv469643
Frequency
Sample Size265
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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