A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1673816



Internal ID15184638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:130350018..130554797hg38UCSC Ensembl
Innerchr12:130834563..131039342hg19UCSC Ensembl
Innerchr12:129400516..129605295hg18UCSC Ensembl
Innerchr12:129187662..129392441hg16UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38204780
hg19204780
hg18204780
hg16204780
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469863
Supporting Variants
Samples
Known GenesPIWIL1, RIMBP2
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)nssv1673816
Frequency
Sample Size265
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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