A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541544



Internal ID15510664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:131446702..131566427hg38UCSC Ensembl
Innerchr8:132458949..132578674hg19UCSC Ensembl
Innerchr8:132528131..132647856hg18UCSC Ensembl
Innerchr8:132528131..132647856hg17UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38119726
hg19119726
hg18119726
hg17119726
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465814
Supporting Variants
SamplesHGDP01279
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)nssv541544
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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