A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469771



Internal ID15187800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:107958007..108111847hg38UCSC Ensembl
Innerchr2:108574463..108728303hg19UCSC Ensembl
Innerchr2:107940895..108094735hg18UCSC Ensembl
Innerchr2:108195863..108349703hg16UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38153841
hg19153841
hg18153841
hg16153841
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1676083, nssv1673138
Samples
Known GenesSLC5A7
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)nsv469771
Frequency
Sample Size265
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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