A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467519



Internal ID15180898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133412162..133556501hg38UCSC Ensembl
Innerchr10:135225666..135370005hg19UCSC Ensembl
Innerchr10:135075656..135219995hg18UCSC Ensembl
Innerchr10:135114547..135258886hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38144340
hg19144340
hg18144340
hg17144340
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv125n27
Supporting Variantsnssv542794
SamplesHGDP00879
Known GenesCYP2E1, MTG1, SCART1, SPRN, SYCE1
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)nsv467519
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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