A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817711



Internal ID16059866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:99820131..100057086hg38UCSC Ensembl
Innerchr15:100360336..100597291hg19UCSC Ensembl
Innerchr15:98177859..98414814hg18UCSC Ensembl
Innerchr15:98177859..98414814hg17UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38236956
hg19236956
hg18236956
hg17236956
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416172
SamplesNA19141
Known GenesADAMTS17
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)nsv817711
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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