A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442225



Internal ID15500944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:34198957..34201829hg38UCSC Ensembl
Innerchr11:34220504..34223376hg19UCSC Ensembl
Innerchr11:34177080..34179952hg18UCSC Ensembl
Innerchr11:34177080..34179952hg17UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg382873
hg192873
hg182873
hg172873
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1659269, nssv1659270, nssv1659268
SamplesNA18947, NA18980, NA18561
Known GenesABTB2
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)nsv442225
Frequency
Sample Size270
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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