A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818901



Internal ID16061056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31113353..31253973hg38UCSC Ensembl
Innerchr12:31266287..31406907hg19UCSC Ensembl
Innerchr12:31157554..31298174hg18UCSC Ensembl
Innerchr12:31157554..31298174hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38140621
hg19140621
hg18140621
hg17140621
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv17n64
Supporting Variantsnssv1416667, nssv1415998, nssv1416668
SamplesNA19119, NA19120, NA12740
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)nsv818901
Frequency
Sample Size112
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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