A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442384



Internal ID15154417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:90089378..90235161hg38UCSC Ensembl
Innerchr15:90632610..90778393hg19UCSC Ensembl
Innerchr15:88433614..88579397hg18UCSC Ensembl
Innerchr15:88433614..88579397hg17UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg38145784
hg19145784
hg18145784
hg17145784
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1660004, nssv1660005, nssv1660003, nssv1660006
SamplesNA19209, NA19094, NA19211, NA19093
Known GenesCIB1, GDPGP1, IDH2, SEMA4B
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)nsv442384
Frequency
Sample Size270
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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