A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441824



Internal ID15153857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:62727005..62730185hg38UCSC Ensembl
Innerchr3:62712680..62715860hg19UCSC Ensembl
Innerchr3:62687720..62690900hg18UCSC Ensembl
Innerchr3:62687720..62690900hg17UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg383181
hg193181
hg183181
hg173181
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1657276, nssv1657277, nssv1657282, nssv1657281, nssv1657283, nssv1657278, nssv1657279, nssv1657280, nssv1657285, nssv1657284
SamplesNA18870, NA18501, NA18500, NA18516, NA19144, NA19210, NA19145, NA18872, NA19128, NA19160
Known GenesCADPS
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)nsv441824
Frequency
Sample Size270
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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