A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817816



Internal ID16059971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:15669207..15718554hg38UCSC Ensembl
Innerchr19:15780017..15829364hg19UCSC Ensembl
Innerchr19:15641017..15690364hg18UCSC Ensembl
Innerchr19:15641017..15690364hg17UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg3849348
hg1949348
hg1849348
hg1749348
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv28n64
Supporting Variantsnssv1417944, nssv1417945
SamplesNA18854, NA18852
Known GenesCYP4F12
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)nsv817816
Frequency
Sample Size112
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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