A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818256



Internal ID16407097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:83380031..83391686hg38UCSC Ensembl
Innerchr1:83845714..83857369hg19UCSC Ensembl
Innerchr1:83618302..83629957hg18UCSC Ensembl
Innerchr1:83557735..83569390hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3811656
hg1911656
hg1811656
hg1711656
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1415802, nssv1415803
SamplesNA11992, NA10860
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)nsv818256
Frequency
Sample Size112
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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