A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460554



Internal ID8487601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:53145738..53194903hg38UCSC Ensembl
Innerchr3:53179754..53228919hg19UCSC Ensembl
Innerchr3:53154794..53203959hg18UCSC Ensembl
Innerchr3:53154794..53203959hg17UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3849166
hg1949166
hg1849166
hg1749166
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537102
SamplesHGDP00491
Known GenesPRKCD
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)nsv460554
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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