A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1672813



Internal ID15530321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:8650621..8802639hg38UCSC Ensembl
Innerchr19:8760093..8913315hg19UCSC Ensembl
Innerchr19:8621093..8774315hg18UCSC Ensembl
Innerchr19:8621093..8774315hg16UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38152019
hg19153223
hg18153223
hg16153223
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469747
Supporting Variants
Samples
Known GenesACTL9, OR2Z1
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)nssv1672813
Frequency
Sample Size265
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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