A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1417319



Internal ID16058274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:75724647..75750289hg38UCSC Ensembl
Innerchr17:73720727..73746370hg19UCSC Ensembl
Innerchr17:71232322..71257965hg18UCSC Ensembl
Innerchr17:71232322..71257965hg17UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3825643
hg1925644
hg1825644
hg1725644
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv817772
Supporting Variants
SamplesNA18608
Known GenesITGB4
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)nssv1417319
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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