A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818905



Internal ID16407746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31848581..31910068hg38UCSC Ensembl
Innerchr12:32001515..32063002hg19UCSC Ensembl
Innerchr12:31892782..31954269hg18UCSC Ensembl
Innerchr12:31892782..31954269hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3861488
hg1961488
hg1861488
hg1761488
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv18n64
Supporting Variantsnssv1415999, nssv1416000
SamplesNA12751, 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)nsv818905
Frequency
Sample Size112
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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