A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818792



Internal ID16060947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133543735..133620799hg38UCSC Ensembl
Innerchr10:135357239..135434303hg19UCSC Ensembl
Innerchr10:135207229..135284293hg18UCSC Ensembl
Innerchr10:135246120..135323184hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3877065
hg1977065
hg1877065
hg1777065
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8n64
Supporting Variantsnssv1416587
SamplesNA19171
Known GenesSPRNP1, SYCE1
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)nsv818792
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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