A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818090



Internal ID16406931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:154609061..154626425hg38UCSC Ensembl
Innerchr2:155465573..155482937hg19UCSC Ensembl
Innerchr2:155173819..155191183hg18UCSC Ensembl
Innerchr2:155291081..155308445hg17UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg3817365
hg1917365
hg1817365
hg1717365
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416324
SamplesNA18855
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)nsv818090
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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