A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1673838



Internal ID15184660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:108569..297747hg38UCSC Ensembl
Innerchr20:89210..278388hg19UCSC Ensembl
Innerchr20:37210..226388hg18UCSC Ensembl
Innerchr20:84210..273388hg16UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38189179
hg19189179
hg18189179
hg16189179
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469544
Supporting Variants
Samples
Known GenesC20orf96, DEFB126, DEFB127, DEFB128, DEFB129, DEFB132, ZCCHC3
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)nssv1673838
Frequency
Sample Size265
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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