A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442406



Internal ID15154439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:81804239..81807079hg38UCSC Ensembl
Innerchr16:81837844..81840684hg19UCSC Ensembl
Innerchr16:80395345..80398185hg18UCSC Ensembl
Innerchr16:80395345..80398185hg17UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg382841
hg192841
hg182841
hg172841
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1660117, nssv1660118, nssv1660120, nssv1660121, nssv1660116, nssv1660119
SamplesNA19222, NA19192, NA19130, NA19154, NA18854, NA19153
Known GenesPLCG2
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)nsv442406
Frequency
Sample Size270
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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