A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818478



Internal ID16407319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152699529..152762320hg38UCSC Ensembl
Innerchr1:152672005..152734796hg19UCSC Ensembl
Innerchr1:150938629..151001420hg18UCSC Ensembl
Innerchr1:149485078..149547869hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3862792
hg1962792
hg1862792
hg1762792
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418427
SamplesNA19193
Known GenesC1orf68, KPRP, LCE4A
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)nsv818478
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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