A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818568



Internal ID16060723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146840669..146875184hg38UCSC Ensembl
Innerchr7:146537761..146572276hg19UCSC Ensembl
Innerchr7:146168694..146203209hg18UCSC Ensembl
Innerchr7:145975409..146009924hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3834516
hg1934516
hg1834516
hg1734516
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418473
SamplesNA19193
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)nsv818568
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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