A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442463



Internal ID15154496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:41553476..41555933hg38UCSC Ensembl
Innerchr19:42059846..42062303hg19UCSC Ensembl
Innerchr19:46751686..46754143hg18UCSC Ensembl
Innerchr19:46751686..46754143hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg382458
hg192458
hg182458
hg172458
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1660454, nssv1660452, nssv1660453
SamplesNA07048, NA11994, NA07055
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)nsv442463
Frequency
Sample Size270
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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