A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817753



Internal ID16406594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:17793441..17811787hg38UCSC Ensembl
Innerchr17:17696755..17715101hg19UCSC Ensembl
Innerchr17:17637480..17655826hg18UCSC Ensembl
Innerchr17:17637480..17655826hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3818347
hg1918347
hg1818347
hg1718347
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417520
SamplesNA18968
Known GenesRAI1, SREBF1
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)nsv817753
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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