A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817980



Internal ID16406821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25254439..25514700hg38UCSC Ensembl
Innerchr22:25650406..25910667hg19UCSC Ensembl
Innerchr22:23980406..24240667hg18UCSC Ensembl
Innerchr22:23974960..24235221hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38260262
hg19260262
hg18260262
hg17260262
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv44n64
Supporting Variantsnssv1417156
SamplesNA18542
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
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)nsv817980
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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