A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817831



Internal ID16406672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:35170884..35182340hg38UCSC Ensembl
Innerchr19:35661787..35673243hg19UCSC Ensembl
Innerchr19:40353627..40365083hg18UCSC Ensembl
Innerchr19:40353627..40365083hg17UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3811457
hg1911457
hg1811457
hg1711457
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417792, nssv1417791
SamplesNA10863, NA12234
Known Genes
MethodSNP array
AnalysisAn integrated HMM algorithm was developed and we constructed accurate models for log R Ratio and B Allele Frequency. We developed more realistic models for state transition between different copy number states. PennCNV incorporates the population allele frequency for each SNP and the distance between adjacent SNPs. We incorporated a Bayesian approach into PennCNV to use family information for a posteriori CNV validation and CNV boundary mapping.
PlatformGPL6433
Comments
ReferenceWang_et_al_2007
Pubmed ID17921354
Accession Number(s)nsv817831
Frequency
Sample Size112
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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