A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442255



Internal ID15500974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9709482..9722328hg38UCSC Ensembl
Innerchr12:9862078..9874924hg19UCSC Ensembl
Innerchr12:9753345..9766191hg18UCSC Ensembl
Innerchr12:9753345..9766191hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3812847
hg1912847
hg1812847
hg1712847
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1659457, nssv1659456
SamplesNA18870, NA18872
Known GenesCLECL1
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)nsv442255
Frequency
Sample Size270
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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