A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461052



Internal ID15174431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:191343165..191352195hg38UCSC Ensembl
Innerchr3:191060954..191069984hg19UCSC Ensembl
Innerchr3:192543648..192552678hg18UCSC Ensembl
Innerchr3:192543656..192552686hg17UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg389031
hg199031
hg189031
hg179031
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv632n27
Supporting Variantsnssv537502
SamplesHGDP00469
Known GenesCCDC50
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)nsv461052
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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