A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469623



Internal ID15187652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:48209728..48360236hg38UCSC Ensembl
Innerchr19:48712985..48863493hg19UCSC Ensembl
Innerchr19:53404797..53555305hg18UCSC Ensembl
Innerchr19:53404797..53555305hg16UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38150509
hg19150509
hg18150509
hg16150509
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1673390
Samples
Known GenesCARD8, CCDC114, EMP3, LOC100505812, TMEM143, ZNF114
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)nsv469623
Frequency
Sample Size265
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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