A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817811



Internal ID16059966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:1444420..1475392hg38UCSC Ensembl
Innerchr19:1444419..1475391hg19UCSC Ensembl
Innerchr19:1395419..1426391hg18UCSC Ensembl
Innerchr19:1395419..1426391hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3830973
hg1930973
hg1830973
hg1730973
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417241
SamplesNA18577
Known GenesAPC2, C19orf25
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)nsv817811
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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