A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817933



Internal ID16060088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43403599..43419802hg38UCSC Ensembl
Innerchr21:44823479..44839682hg19UCSC Ensembl
Innerchr21:43647907..43664110hg18UCSC Ensembl
Innerchr21:43647907..43664110hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3816204
hg1916204
hg1816204
hg1716204
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1415714, nssv1415715
SamplesNA12249, NA10835
Known GenesSIK1
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)nsv817933
Frequency
Sample Size112
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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