A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818759



Internal ID16060914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46172086..46281263hg38UCSC Ensembl
Innerchr10:47543322..47652499hg19UCSC Ensembl
Innerchr10:47013328..47122505hg18UCSC Ensembl
Innerchr10:47013328..47122505hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38109178
hg19109178
hg18109178
hg17109178
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416956, nssv1416957
SamplesNA19139, NA19138
Known GenesANTXRLP1
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)nsv818759
Frequency
Sample Size112
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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