A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817734



Internal ID16406575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:64041842..64073143hg38UCSC Ensembl
Innerchr16:64075746..64107047hg19UCSC Ensembl
Innerchr16:62633247..62664548hg18UCSC Ensembl
Innerchr16:62633247..62664548hg17UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg3831302
hg1931302
hg1831302
hg1731302
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418322, nssv1418321, nssv1416681
SamplesNA19119, NA19094, NA19093
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)nsv817734
Frequency
Sample Size112
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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