A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469787



Internal ID15187816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:43209056..43382194hg38UCSC Ensembl
Innerchr19:43713208..43886346hg19UCSC Ensembl
Innerchr19:48405048..48578186hg18UCSC Ensembl
Innerchr19:48405048..48578186hg16UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38173139
hg19173139
hg18173139
hg16173139
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1675258, nssv1672600, nssv1673361
Samples
Known GenesCD177, LOC284344, PRG1, PSG9
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)nsv469787
Frequency
Sample Size265
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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