A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442284



Internal ID15154317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:93803904..93807790hg38UCSC Ensembl
Innerchr12:94197680..94201566hg19UCSC Ensembl
Innerchr12:92721811..92725697hg18UCSC Ensembl
Innerchr12:92700148..92704034hg17UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg383887
hg193887
hg183887
hg173887
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1659565, nssv1659564, nssv1659566
SamplesNA18997, NA18995, NA18981
Known GenesCRADD
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)nsv442284
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