A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441834



Internal ID15500553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:100950673..100954382hg38UCSC Ensembl
Innerchr3:100669517..100673226hg19UCSC Ensembl
Innerchr3:102152207..102155916hg18UCSC Ensembl
Innerchr3:102152207..102155916hg17UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg383710
hg193710
hg183710
hg173710
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1657329, nssv1657324, nssv1657330, nssv1657323, nssv1657327, nssv1657328, nssv1657326, nssv1657325
SamplesNA18502, NA19209, NA19194, NA19193, NA18500, NA18506, NA18854, NA18852
Known GenesABI3BP
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)nsv441834
Frequency
Sample Size270
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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