A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442454



Internal ID15154487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:14804829..14812071hg38UCSC Ensembl
Innerchr19:14915641..14922883hg19UCSC Ensembl
Innerchr19:14776641..14783883hg18UCSC Ensembl
Innerchr19:14776641..14783883hg17UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg387243
hg197243
hg187243
hg177243
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1660395, nssv1660394, nssv1660392, nssv1660393
SamplesNA19205, NA18856, NA18857, NA18913
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)nsv442454
Frequency
Sample Size270
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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