A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817693



Internal ID16406534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:55496634..55517462hg38UCSC Ensembl
Innerchr15:55788832..55809660hg19UCSC Ensembl
Innerchr15:53576124..53596952hg18UCSC Ensembl
Innerchr15:53576124..53596952hg17UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg3820829
hg1920829
hg1820829
hg1720829
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416805, nssv1416807
SamplesNA19159, NA19160
Known GenesDYX1C1, DYX1C1-CCPG1
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)nsv817693
Frequency
Sample Size112
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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