A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442289



Internal ID15501008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:117611519..117613722hg38UCSC Ensembl
Innerchr12:118049324..118051527hg19UCSC Ensembl
Innerchr12:116533707..116535910hg18UCSC Ensembl
Innerchr12:116512044..116514247hg17UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg382204
hg192204
hg182204
hg172204
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1659574, nssv1659575
SamplesNA10851, NA12056
Known GenesKSR2
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)nsv442289
Frequency
Sample Size270
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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