A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442108



Internal ID15500827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:56137362..56181792hg38UCSC Ensembl
Innerchr8:57049921..57094351hg19UCSC Ensembl
Innerchr8:57212475..57256905hg18UCSC Ensembl
Innerchr8:57212475..57256905hg17UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3844431
hg1944431
hg1844431
hg1744431
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1658666, nssv1658665
SamplesNA12156, NA12875
Known GenesPLAG1
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)nsv442108
Frequency
Sample Size270
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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