A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818747



Internal ID16060902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:13012479..13018410hg38UCSC Ensembl
Innerchr10:13054479..13060410hg19UCSC Ensembl
Innerchr10:13094485..13100416hg18UCSC Ensembl
Innerchr10:13094485..13100416hg17UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg385932
hg195932
hg185932
hg175932
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417959, nssv1417970
SamplesNA06985, NA06991
Known GenesCCDC3
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)nsv818747
Frequency
Sample Size112
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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