A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460560



Internal ID15173939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:58628289..58656725hg38UCSC Ensembl
Innerchr3:58614016..58642452hg19UCSC Ensembl
Innerchr3:58589056..58617492hg18UCSC Ensembl
Innerchr3:58589056..58617492hg17UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg3828437
hg1928437
hg1828437
hg1728437
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537107
SamplesHGDP00774
Known GenesFAM3D
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)nsv460560
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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