A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818509



Internal ID16407350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:62551843..63275092hg38UCSC Ensembl
Innerchr7:62012221..62735470hg19UCSC Ensembl
Innerchr7:61649656..62372905hg18UCSC Ensembl
Innerchr7:61456371..62179620hg17UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38723250
hg19723250
hg18723250
hg17723250
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416645, nssv1416646
SamplesNA19120, NA19116
Known Genes
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)nsv818509
Frequency
Sample Size112
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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