A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818898



Internal ID16061053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27495478..27501613hg38UCSC Ensembl
Innerchr12:27648411..27654546hg19UCSC Ensembl
Innerchr12:27539678..27545813hg18UCSC Ensembl
Innerchr12:27539678..27545813hg17UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg386136
hg196136
hg186136
hg176136
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv16n64
Supporting Variantsnssv1416489, nssv1416491, nssv1416490
SamplesNA18515, NA18516, NA18517
Known GenesSMCO2
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)nsv818898
Frequency
Sample Size112
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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