A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442359



Internal ID15154392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22777657..23191992hg38UCSC Ensembl
Innerchr15:22681076..23095411hg19UCSC Ensembl
Innerchr15:20232440..20646852hg18UCSC Ensembl
Innerchr15:20232440..20646852hg17UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38414336
hg19414336
hg18414413
hg17414413
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1659841, nssv1659839, nssv1659840
SamplesNA18507, NA18555, NA18506
Known GenesCYFIP1, GOLGA6L1, GOLGA8DP, LOC283683, NIPA1, NIPA2, TUBGCP5
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)nsv442359
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