A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1674897



Internal ID15532405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:131260094..131421320hg38UCSC Ensembl
Innerchr12:131744639..131905865hg19UCSC Ensembl
Innerchr12:130310592..130471818hg18UCSC Ensembl
Innerchr12:130097738..130258964hg16UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38161227
hg19161227
hg18161227
hg16161227
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469686
Supporting Variants
Samples
Known GenesLOC338797
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)nssv1674897
Frequency
Sample Size265
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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