A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818146



Internal ID16060301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:62725627..62728634hg38UCSC Ensembl
Innerchr3:62711302..62714309hg19UCSC Ensembl
Innerchr3:62686342..62689349hg18UCSC Ensembl
Innerchr3:62686342..62689349hg17UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg383008
hg193008
hg183008
hg173008
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418140, nssv1416430, nssv1416714, nssv1418139
SamplesNA18516, NA19144, NA19145, NA19160
Known GenesCADPS
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)nsv818146
Frequency
Sample Size112
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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