A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818166



Internal ID16407007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:124927387..124927993hg38UCSC Ensembl
Innerchr3:124646234..124646837hg19UCSC Ensembl
Innerchr3:126128924..126129527hg18UCSC Ensembl
Innerchr3:126128924..126129527hg17UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38607
hg19604
hg18604
hg17604
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418542
SamplesNA12154
Known GenesMUC13
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)nsv818166
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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