A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1649515



Internal ID15111149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55808470..55828798hg38UCSC Ensembl
Innerchr16:55842382..55862710hg19UCSC Ensembl
Innerchr16:54399883..54420211hg18UCSC Ensembl
Innerchr16:54399883..54420211hg17UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3820329
hg1920329
hg1820329
hg1720329
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442724
Supporting Variants
SamplesNA07048
Known GenesCES1
MethodSNP array
AnalysisWe used two computational approaches to identify CNVs: the hidden Markov model Birdseye, and an approach based on correlation between nearby probes across a population sample. To maximize the quality of reported findings, we ran duplicate experiments in independent labs, and report the CNVs that were observed in both experiments, in the same samples and at essentially identical genomic locations.
Platform[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array
Comments
ReferenceMcCarroll_et_al_2008
Pubmed ID18776908
Accession Number(s)nssv1649515
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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