A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442453



Internal ID15501172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:12405332..12435374hg38UCSC Ensembl
Innerchr19:12516146..12546188hg19UCSC Ensembl
Innerchr19:12377146..12407188hg18UCSC Ensembl
Innerchr19:12377146..12407188hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3830043
hg1930043
hg1830043
hg1730043
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1660389, nssv1660390, nssv1660391, nssv1660388
SamplesNA19131, NA12044, NA19207, NA19208
Known GenesZNF443
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)nsv442453
Frequency
Sample Size270
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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