A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818600



Internal ID16407441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:178501730..178502359hg38UCSC Ensembl
Innerchr1:178470865..178471494hg19UCSC Ensembl
Innerchr1:176737488..176738117hg18UCSC Ensembl
Innerchr1:175202522..175203151hg17UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38630
hg19630
hg18630
hg17630
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417819, nssv1417820
SamplesNA18853, NA18852
Known Genes
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)nsv818600
Frequency
Sample Size112
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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