A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818280



Internal ID16407121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:138229129..138254541hg38UCSC Ensembl
Innerchr4:139150283..139175695hg19UCSC Ensembl
Innerchr4:139369733..139395145hg18UCSC Ensembl
Innerchr4:139507888..139533300hg17UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3825413
hg1925413
hg1825413
hg1725413
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417153
SamplesNA18542
Known GenesSLC7A11
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)nsv818280
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer