A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1652524



Internal ID15473769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:43052689..43092819hg38UCSC Ensembl
Innerchr19:43556841..43596971hg19UCSC Ensembl
Innerchr19:48248681..48288811hg18UCSC Ensembl
Innerchr19:48248681..48288811hg17UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3840131
hg1940131
hg1840131
hg1740131
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442767
Supporting Variants
SamplesNA18537
Known GenesPSG2
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)nssv1652524
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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