A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817707



Internal ID16059862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:90104624..90241698hg38UCSC Ensembl
Innerchr15:90647856..90784930hg19UCSC Ensembl
Innerchr15:88448860..88585934hg18UCSC Ensembl
Innerchr15:88448860..88585934hg17UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg38137075
hg19137075
hg18137075
hg17137075
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418319, nssv1418320
SamplesNA19094, NA19093
Known GenesCIB1, GDPGP1, SEMA4B
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)nsv817707
Frequency
Sample Size112
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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