A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442464



Internal ID15154497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:41683409..41687366hg38UCSC Ensembl
Innerchr19:42187340..42191295hg19UCSC Ensembl
Innerchr19:46879180..46883135hg18UCSC Ensembl
Innerchr19:46879180..46883135hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg383958
hg193956
hg183956
hg173956
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1660455, nssv1660457, nssv1660458, nssv1660456
SamplesNA18861, NA19194, NA19193, NA18872
Known GenesCEACAM7
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)nsv442464
Frequency
Sample Size270
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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