A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442761



Internal ID15501480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:15689538..15713257hg38UCSC Ensembl
Innerchr19:15800348..15824067hg19UCSC Ensembl
Innerchr19:15661348..15685067hg18UCSC Ensembl
Innerchr19:15661348..15685067hg17UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg3823720
hg1923720
hg1823720
hg1723720
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1652288, nssv1652293, nssv1652300, nssv1652296, nssv1652289, nssv1652301, nssv1652290, nssv1652291, nssv1652295, nssv1652297, nssv1652299, nssv1652294, nssv1652292, nssv1652298
SamplesNA18508, NA19171, NA19137, NA18859, NA18515, NA18516, NA18523, NA19173, NA18506, NA18854, NA19116, NA18852, NA18505, NA19139
Known GenesCYP4F12
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)nsv442761
Frequency
Sample Size270
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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