A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817781



Internal ID16059936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:6124883..6184093hg38UCSC Ensembl
Innerchr18:6124882..6184092hg19UCSC Ensembl
Innerchr18:6114882..6174092hg18UCSC Ensembl
Innerchr18:6114882..6174092hg17UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3859211
hg1959211
hg1859211
hg1759211
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418519
SamplesNA19193
Known GenesL3MBTL4
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)nsv817781
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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