A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv29n64



Internal ID20146467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:45334011..45373709hg38UCSC Ensembl
chr19:45837269..45876967hg19UCSC Ensembl
chr19:50529109..50568807hg18UCSC Ensembl
chr19:50529109..50568807hg17UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3839699
hg1939699
hg1839699
hg1739699
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv817850, nsv817852
SamplesNA10863, NA07357, NA12234
Known GenesERCC2, KLC3
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)dgv29n64
Frequency
Sample Size112
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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