A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1417337



Internal ID16058322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:76006644..76013130hg38UCSC Ensembl
Innerchr17:74002725..74009211hg19UCSC Ensembl
Innerchr17:71514320..71520806hg18UCSC Ensembl
Innerchr17:71514320..71520806hg17UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg386487
hg196487
hg186487
hg176487
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv817774
Supporting Variants
SamplesNA18609
Known GenesEVPL
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)nssv1417337
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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