A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457482



Internal ID15170861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:29861040..29874126hg38UCSC Ensembl
Innerchr16:29872361..29885447hg19UCSC Ensembl
Innerchr16:29779862..29792948hg18UCSC Ensembl
Innerchr16:29779862..29792948hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3813087
hg1913087
hg1813087
hg1713087
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534664
Samples1780862346_A
Known GenesCDIPT, CDIPT-AS1, SEZ6L2
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)nsv457482
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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