A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469744



Internal ID15534459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:111241283..111416057hg38UCSC Ensembl
Innerchr2:111998860..112173634hg19UCSC Ensembl
Innerchr2:111715331..111890105hg18UCSC Ensembl
Innerchr2:112094006..112268780hg16UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38174775
hg19174775
hg18174775
hg16174775
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1676426, nssv1672265
Samples
Known GenesMIR4435-1, MIR4435-1HG, MIR4435-2
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)nsv469744
Frequency
Sample Size265
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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