A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457189



Internal ID15517254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:68694613..68718290hg38UCSC Ensembl
Innerchr15:68986952..69010629hg19UCSC Ensembl
Innerchr15:66774006..66797683hg18UCSC Ensembl
Innerchr15:66774006..66797683hg17UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg3823678
hg1923678
hg1823678
hg1723678
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534431
SamplesHGDP01189
Known GenesCORO2B
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv457189
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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