A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460820



Internal ID15520885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:110564869..110602188hg38UCSC Ensembl
Innerchr3:110283716..110321035hg19UCSC Ensembl
Innerchr3:111766406..111803725hg18UCSC Ensembl
Innerchr3:111766406..111803725hg17UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg3837320
hg1937320
hg1837320
hg1737320
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537322
SamplesHGDP01103
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)nsv460820
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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