A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1417209



Internal ID16404869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:44891349..44903816hg38UCSC Ensembl
Innerchr21:46311264..46323731hg19UCSC Ensembl
Innerchr21:45135692..45148159hg18UCSC Ensembl
Innerchr21:45135692..45148159hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3812468
hg1912468
hg1812468
hg1712468
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv817935
Supporting Variants
SamplesNA18558
Known GenesITGB2
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)nssv1417209
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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