A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818703



Internal ID16060858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:69420931..69433561hg38UCSC Ensembl
Innerchr9:72035847..72048477hg19UCSC Ensembl
Innerchr9:71225667..71238297hg18UCSC Ensembl
Innerchr9:69265401..69278031hg17UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3812631
hg1912631
hg1812631
hg1712631
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416951, nssv1416653, nssv1415883, nssv1416952
SamplesNA19139, NA19141, NA19138, NA19116
Known GenesAPBA1
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)nsv818703
Frequency
Sample Size112
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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