A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541262



Internal ID15511086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:11960855..12040700hg38UCSC Ensembl
Innerchr8:11818364..11898209hg19UCSC Ensembl
Innerchr8:11855773..11935618hg18UCSC Ensembl
Innerchr8:11855773..11935618hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3879846
hg1979846
hg1879846
hg1779846
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465468
Supporting Variants
SamplesHGDP01351
Known GenesDEFB134, DEFB135, DEFB136
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)nssv541262
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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