A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817779



Internal ID16059934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:3569622..3571219hg38UCSC Ensembl
Innerchr18:3569620..3571217hg19UCSC Ensembl
Innerchr18:3559620..3561217hg18UCSC Ensembl
Innerchr18:3559620..3561217hg17UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg381598
hg191598
hg181598
hg171598
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417550, nssv1417451
SamplesNA18953, NA18971
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)nsv817779
Frequency
Sample Size112
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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