A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536904



Internal ID15506292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:72450..170062hg38UCSC Ensembl
Innerchr3:114133..211745hg19UCSC Ensembl
Innerchr3:89133..186745hg18UCSC Ensembl
Innerchr3:89133..186745hg17UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg3897613
hg1997613
hg1897613
hg1797613
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460303
Supporting Variants
SamplesHGDP00459
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)nssv536904
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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