A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461047



Internal ID15521112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:188391214..188474598hg38UCSC Ensembl
Innerchr3:188109002..188192386hg19UCSC Ensembl
Innerchr3:189591696..189675080hg18UCSC Ensembl
Innerchr3:189591704..189675088hg17UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3883385
hg1983385
hg1883385
hg1783385
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537499
Samples1798860251_A
Known GenesLPP
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)nsv461047
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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