A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818569



Internal ID16060724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146842264..146845895hg38UCSC Ensembl
Innerchr7:146539356..146542987hg19UCSC Ensembl
Innerchr7:146170289..146173920hg18UCSC Ensembl
Innerchr7:145977004..145980635hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg383632
hg193632
hg183632
hg173632
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418163, nssv1418162
SamplesNA19143, NA19145
Known GenesCNTNAP2
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)nsv818569
Frequency
Sample Size112
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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