A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442312



Internal ID15501031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:62744411..63055024hg38UCSC Ensembl
Innerchr13:63318544..63629157hg19UCSC Ensembl
Innerchr13:62216545..62527158hg18UCSC Ensembl
Innerchr13:62216545..62527158hg17UCSC Ensembl
Cytoband13q21.31
Allele length
AssemblyAllele length
hg38310614
hg19310614
hg18310614
hg17310614
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1659675, nssv1659674
SamplesNA18973, NA18956
Known Genes
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)nsv442312
Frequency
Sample Size270
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer