A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442269



Internal ID15500988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:39909704..39921224hg38UCSC Ensembl
Innerchr12:40303506..40315026hg19UCSC Ensembl
Innerchr12:38589773..38601293hg18UCSC Ensembl
Innerchr12:38589773..38601293hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3811521
hg1911521
hg1811521
hg1711521
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1659523, nssv1659522, nssv1659524
SamplesNA18502, NA19206, NA18505
Known GenesSLC2A13
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)nsv442269
Frequency
Sample Size270
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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