A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442246



Internal ID15154279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:128463624..128465155hg38UCSC Ensembl
Innerchr11:128333519..128335050hg19UCSC Ensembl
Innerchr11:127838729..127840260hg18UCSC Ensembl
Innerchr11:127838729..127840260hg17UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg381532
hg191532
hg181532
hg171532
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1659418, nssv1659409, nssv1659416, nssv1659414, nssv1659422, nssv1659423, nssv1659410, nssv1659419, nssv1659411, nssv1659415, nssv1659420, nssv1659421, nssv1659412, nssv1659413, nssv1659417
SamplesNA19152, NA18500, NA18521, NA18517, NA18855, NA18912, NA18508, NA18515, NA18522, NA18502, NA19098, NA19193, NA19204, NA19200, NA19202
Known GenesETS1
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)nsv442246
Frequency
Sample Size270
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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