A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818529



Internal ID16060684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:82293797..82297492hg38UCSC Ensembl
Innerchr7:81923113..81926808hg19UCSC Ensembl
Innerchr7:81761049..81764744hg18UCSC Ensembl
Innerchr7:81567764..81571459hg17UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg383696
hg193696
hg183696
hg173696
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417097, nssv1417424
SamplesNA18952, NA18529
Known GenesCACNA2D1
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)nsv818529
Frequency
Sample Size112
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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