A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818563



Internal ID16060718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:142686711..142784320hg38UCSC Ensembl
Innerchr7:142394525..142492130hg19UCSC Ensembl
Innerchr7:142074094..142192134hg18UCSC Ensembl
Innerchr7:141880809..141998849hg17UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3897610
hg1997606
hg18118041
hg17118041
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416076
SamplesNA12812
Known GenesPRSS1, PRSS2, PRSS3P2
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)nsv818563
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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