A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817690



Internal ID16059845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:43622175..43647444hg38UCSC Ensembl
Innerchr15:43914373..43939642hg19UCSC Ensembl
Innerchr15:41701665..41726934hg18UCSC Ensembl
Innerchr15:41701665..41726934hg17UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg3825270
hg1925270
hg1825270
hg1725270
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416974, nssv1416880, nssv1416879
SamplesNA19138, NA19238, NA19240
Known GenesCATSPER2
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)nsv817690
Frequency
Sample Size112
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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