A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1660457



Internal ID15496933
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 Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442464
Supporting Variants
SamplesNA19193
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)nssv1660457
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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