A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461133



Internal ID15521198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197106779..197258725hg38UCSC Ensembl
Innerchr3:196833650..196985596hg19UCSC Ensembl
Innerchr3:198318047..198469993hg18UCSC Ensembl
Innerchr3:198321960..198473906hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38151947
hg19151947
hg18151947
hg17151947
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537574
SamplesHGDP00533
Known GenesDLG1
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)nsv461133
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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