A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460302



Internal ID15520367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:72450..153276hg38UCSC Ensembl
Innerchr3:114133..194959hg19UCSC Ensembl
Innerchr3:89133..169959hg18UCSC Ensembl
Innerchr3:89133..169959hg17UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg3880827
hg1980827
hg1880827
hg1780827
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv586n27
Supporting Variantsnssv536903
SamplesHGDP01090
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)nsv460302
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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