A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818753



Internal ID16060908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:28275803..28282931hg38UCSC Ensembl
Innerchr10:28564732..28571860hg19UCSC Ensembl
Innerchr10:28604738..28611866hg18UCSC Ensembl
Innerchr10:28604738..28611866hg17UCSC Ensembl
Cytoband10p11.23
Allele length
AssemblyAllele length
hg387129
hg197129
hg187129
hg177129
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5n64
Supporting Variantsnssv1418301, nssv1418300
SamplesNA19094, NA19093
Known GenesMPP7
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)nsv818753
Frequency
Sample Size112
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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