A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460460



Internal ID15520525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:20596736..20676632hg38UCSC Ensembl
Innerchr3:20638228..20718124hg19UCSC Ensembl
Innerchr3:20613232..20693128hg18UCSC Ensembl
Innerchr3:20613232..20693128hg17UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg3879897
hg1979897
hg1879897
hg1779897
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537028
SamplesHGDP00645
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)nsv460460
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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