A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442433



Internal ID15154466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:36674904..36679816hg38UCSC Ensembl
Innerchr18:34254867..34259779hg19UCSC Ensembl
Innerchr18:32508865..32513777hg18UCSC Ensembl
Innerchr18:32508865..32513777hg17UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg384913
hg194913
hg184913
hg174913
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1660278, nssv1660277, nssv1660279
SamplesNA18503, NA18505, NA18971
Known GenesFHOD3
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)nsv442433
Frequency
Sample Size270
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer