A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460877



Internal ID15520942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:145251103..145456796hg38UCSC Ensembl
Innerchr3:144968890..145174583hg19UCSC Ensembl
Innerchr3:146451580..146657273hg18UCSC Ensembl
Innerchr3:146451588..146657281hg17UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38205694
hg19205694
hg18205694
hg17205694
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537362
SamplesHGDP00688
Known Genes
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)nsv460877
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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