A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457388



Internal ID15170767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:8445407..8552076hg38UCSC Ensembl
Innerchr16:8495409..8602078hg19UCSC Ensembl
Innerchr16:8435410..8542079hg18UCSC Ensembl
Innerchr16:8435410..8542079hg17UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38106670
hg19106670
hg18106670
hg17106670
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv340n27
Supporting Variantsnssv534585
SamplesHGDP00397
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)nsv457388
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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