A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817780



Internal ID16059935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:4330954..4335455hg38UCSC Ensembl
Innerchr18:4330954..4335455hg19UCSC Ensembl
Innerchr18:4320954..4325455hg18UCSC Ensembl
Innerchr18:4320954..4325455hg17UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg384502
hg194502
hg184502
hg174502
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416250, nssv1416239
SamplesNA19142, NA19140
Known GenesDLGAP1
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)nsv817780
Frequency
Sample Size112
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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