A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1415802



Internal ID16403991
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 StatusS
Merged Variantsnsv818256
Supporting Variants
SamplesNA11992
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)nssv1415802
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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