A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469841



Internal ID15187870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:73621181..73770495hg38UCSC Ensembl
Innerchr7:73035511..73184825hg19UCSC Ensembl
Innerchr7:72673447..72822761hg18UCSC Ensembl
Innerchr7:72447608..72596922hg16UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38149315
hg19149315
hg18149315
hg16149315
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1673238
Samples
Known GenesABHD11, CLDN3, DNAJC30, LINC00035, MIR4284, MLXIPL, STX1A, VPS37D, WBSCR22
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)nsv469841
Frequency
Sample Size265
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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