A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818213



Internal ID16407054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9369390..9718357hg38UCSC Ensembl
Innerchr4:9371116..9719981hg19UCSC Ensembl
Innerchr4:8980214..9329079hg18UCSC Ensembl
Innerchr4:9047385..9396250hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38348968
hg19348866
hg18348866
hg17348866
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417617
SamplesNA18978
Known GenesDEFB131, LOC650293, MIR548I2
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)nsv818213
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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