A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1417954



Internal ID16058345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:38308738..38451364hg38UCSC Ensembl
Innerchr20:36937140..37080007hg19UCSC Ensembl
Innerchr20:36370554..36513421hg18UCSC Ensembl
Innerchr20:36370554..36513421hg17UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38142627
hg19142868
hg18142868
hg17142868
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv817893
Supporting Variants
SamplesNA18852
Known GenesBPI, LBP, SNHG11, SNHG17, SNORA39, SNORA60, SNORA71A, SNORA71B, SNORA71C, SNORA71D
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)nssv1417954
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