A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460854



Internal ID15174233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130458896..130520880hg38UCSC Ensembl
Innerchr3:130177740..130239724hg19UCSC Ensembl
Innerchr3:131660430..131722414hg18UCSC Ensembl
Innerchr3:131660438..131722422hg17UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3861985
hg1961985
hg1861985
hg1761985
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537346
SamplesHGDP00088
Known GenesCOL6A5
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)nsv460854
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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