A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817851



Internal ID16406692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:48714289..48745988hg38UCSC Ensembl
Innerchr2:48941428..48973127hg19UCSC Ensembl
Innerchr2:48794932..48826631hg18UCSC Ensembl
Innerchr2:48853079..48884778hg17UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3831700
hg1931700
hg1831700
hg1731700
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416309
SamplesNA18855
Known GenesLHCGR, STON1-GTF2A1L
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)nsv817851
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