A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1659839



Internal ID15128187
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
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442359
Supporting Variants
SamplesNA18555
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)nssv1659839
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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