A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817810



Internal ID16059965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:388413..418178hg38UCSC Ensembl
Innerchr19:388413..418178hg19UCSC Ensembl
Innerchr19:339413..369178hg18UCSC Ensembl
Innerchr19:339413..369178hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3829766
hg1929766
hg1829766
hg1729766
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417943
SamplesNA18853
Known GenesC2CD4C, SHC2
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)nsv817810
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