A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442365



Internal ID15501084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:24824404..24839699hg38UCSC Ensembl
Innerchr15:25069551..25084846hg19UCSC Ensembl
Innerchr15:22620644..22635939hg18UCSC Ensembl
Innerchr15:22620644..22635939hg17UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg3815296
hg1915296
hg1815296
hg1715296
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1659886, nssv1659887, nssv1659888
SamplesNA19131, NA19172, NA19173
Known GenesSNRPN
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)nsv442365
Frequency
Sample Size270
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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