A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1642709



Internal ID15492089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:21693006..21701594hg38UCSC Ensembl
Innerchr11:21714552..21723140hg19UCSC Ensembl
Innerchr11:21671128..21679716hg18UCSC Ensembl
Innerchr11:21671128..21679716hg17UCSC Ensembl
Cytoband11p14.3
Allele length
AssemblyAllele length
hg388589
hg198589
hg188589
hg178589
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442604
Supporting Variants
SamplesNA19119
Known Genes
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)nssv1642709
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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