A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442221



Internal ID15500940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:11280262..11283933hg38UCSC Ensembl
Innerchr11:11301809..11305480hg19UCSC Ensembl
Innerchr11:11258385..11262056hg18UCSC Ensembl
Innerchr11:11258385..11262056hg17UCSC Ensembl
Cytoband11p15.3
Allele length
AssemblyAllele length
hg383672
hg193672
hg183672
hg173672
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1659255, nssv1659254, nssv1659253
SamplesNA19171, NA19209, NA18501
Known GenesGALNT18
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)nsv442221
Frequency
Sample Size270
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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