A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442391



Internal ID15154424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:15886651..15930179hg38UCSC Ensembl
Innerchr16:15980508..16024036hg19UCSC Ensembl
Innerchr16:15888009..15931537hg18UCSC Ensembl
Innerchr16:15888009..15931537hg17UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3843529
hg1943529
hg1843529
hg1743529
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1660036, nssv1660037, nssv1660038, nssv1660040, nssv1660041, nssv1660039
SamplesNA18500, NA19210, NA19211, NA19103, NA18502, NA19101
Known GenesFOPNL
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)nsv442391
Frequency
Sample Size270
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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