A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817771



Internal ID9373594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:63488670..63496400hg38UCSC Ensembl
Innerchr17:61566031..61573761hg19UCSC Ensembl
Innerchr17:58919763..58927493hg18UCSC Ensembl
Innerchr17:58919763..58927493hg17UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg387731
hg197731
hg187731
hg177731
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417318
SamplesNA18608
Known GenesACE
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)nsv817771
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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