A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469666



Internal ID15187695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:43272995..43430182hg38UCSC Ensembl
Innerchr19:43777147..43934334hg19UCSC Ensembl
Innerchr19:48468987..48626174hg18UCSC Ensembl
Innerchr19:48468987..48626174hg16UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38157188
hg19157188
hg18157188
hg16157188
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1674195
Samples
Known GenesCD177, PRG1, TEX101
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)nsv469666
Frequency
Sample Size265
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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