A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818922



Internal ID16061077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:3597839..3688236hg38UCSC Ensembl
Innerchr2:3645429..3735826hg19UCSC Ensembl
Innerchr2:3623304..3713701hg18UCSC Ensembl
Innerchr2:3138798..3229195hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3890398
hg1990398
hg1890398
hg1790398
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416299
SamplesNA18855
Known GenesALLC, COLEC11
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)nsv818922
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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