A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460739



Internal ID15520804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:83498284..83577546hg38UCSC Ensembl
Innerchr3:83547435..83626697hg19UCSC Ensembl
Innerchr3:83630125..83709387hg18UCSC Ensembl
Innerchr3:83630125..83709387hg17UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg3879263
hg1979263
hg1879263
hg1779263
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537257
SamplesHGDP00930
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)nsv460739
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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