A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537132



Internal ID15506611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:65199224..65229010hg38UCSC Ensembl
Innerchr3:65184899..65214685hg19UCSC Ensembl
Innerchr3:65159939..65189725hg18UCSC Ensembl
Innerchr3:65159939..65189725hg17UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3829787
hg1929787
hg1829787
hg1729787
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460591
Supporting Variants
SamplesHGDP00533
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)nssv537132
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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