A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460558



Internal ID15520623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:57426900..57471713hg38UCSC Ensembl
Innerchr3:57412627..57457440hg19UCSC Ensembl
Innerchr3:57387667..57432480hg18UCSC Ensembl
Innerchr3:57387667..57432480hg17UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg3844814
hg1944814
hg1844814
hg1744814
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537106
SamplesHGDP00828
Known GenesDNAH12
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)nsv460558
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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