A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441682



Internal ID15153715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:15162689..15163790hg38UCSC Ensembl
Innerchr1:15489185..15490286hg19UCSC Ensembl
Innerchr1:15361772..15362873hg18UCSC Ensembl
Innerchr1:15234491..15235592hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg381102
hg191102
hg181102
hg171102
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1656588, nssv1656589, nssv1656590, nssv1656591
SamplesNA19208, NA19103, NA19206, NA19102
Known GenesTMEM51
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)nsv441682
Frequency
Sample Size270
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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