A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1417056



Internal ID16403621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:100461667..100509449hg38UCSC Ensembl
Innerchr10:102221424..102269206hg19UCSC Ensembl
Innerchr10:102211414..102259196hg18UCSC Ensembl
Innerchr10:102211414..102259196hg17UCSC Ensembl
Cytoband10q24.31
Allele length
AssemblyAllele length
hg3847783
hg1947783
hg1847783
hg1747783
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv818783
Supporting Variants
SamplesNA07029
Known GenesSEC31B, WNT8B
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)nssv1417056
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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