A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818481



Internal ID16407322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:11963790..11984238hg38UCSC Ensembl
Innerchr7:12003416..12023864hg19UCSC Ensembl
Innerchr7:11969941..11990389hg18UCSC Ensembl
Innerchr7:11776656..11797104hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3820449
hg1920449
hg1820449
hg1720449
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416941, nssv1416942
SamplesNA19138, NA19137
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)nsv818481
Frequency
Sample Size112
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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