A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818482



Internal ID16407323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:12476544..12524502hg38UCSC Ensembl
Innerchr7:12516170..12564128hg19UCSC Ensembl
Innerchr7:12482695..12530653hg18UCSC Ensembl
Innerchr7:12289410..12337368hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3847959
hg1947959
hg1847959
hg1747959
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418157, nssv1418158
SamplesNA19145, NA19144
Known Genes
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)nsv818482
Frequency
Sample Size112
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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