A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817642



Internal ID16059797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:91255717..91371146hg38UCSC Ensembl
Innerchr14:91722061..91837490hg19UCSC Ensembl
Innerchr14:90791814..90907243hg18UCSC Ensembl
Innerchr14:90791814..90907243hg17UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg38115430
hg19115430
hg18115430
hg17115430
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1415700
SamplesNA12248
Known GenesCCDC88C
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)nsv817642
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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