A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818908



Internal ID16407749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:33371147..34520938hg38UCSC Ensembl
Innerchr12:33524082..34673873hg19UCSC Ensembl
Innerchr12:33415349..34565140hg18UCSC Ensembl
Innerchr12:33415349..34565140hg17UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg381149792
hg191149792
hg181149792
hg171149792
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418020
SamplesNA07357
Known GenesALG10, SYT10
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)nsv818908
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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