A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1651969



Internal ID15496831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:5510228..5513051hg38UCSC Ensembl
Innerchr19:5510239..5513062hg19UCSC Ensembl
Innerchr19:5461239..5464062hg18UCSC Ensembl
Innerchr19:5461239..5464062hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg382824
hg192824
hg182824
hg172824
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442758
Supporting Variants
SamplesNA19193
Known Genes
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)nssv1651969
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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