A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457435



Internal ID15170814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:15886390..15924732hg38UCSC Ensembl
Innerchr16:15980247..16018589hg19UCSC Ensembl
Innerchr16:15887748..15926090hg18UCSC Ensembl
Innerchr16:15887748..15926090hg17UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3838343
hg1938343
hg1838343
hg1738343
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv345n27
Supporting Variantsnssv534628
SamplesHGDP00928
Known GenesFOPNL
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)nsv457435
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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