A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457356



Internal ID15517421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:3153034..3192615hg38UCSC Ensembl
Innerchr16:3203035..3242615hg19UCSC Ensembl
Innerchr16:3143036..3182616hg18UCSC Ensembl
Innerchr16:3143036..3182616hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3839582
hg1939581
hg1839581
hg1739581
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv337n27
Supporting Variantsnssv534557
SamplesHGDP00615
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)nsv457356
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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