A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818020



Internal ID16406861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:29773991..29806072hg38UCSC Ensembl
InnerchrX:29792108..29824189hg19UCSC Ensembl
InnerchrX:29702029..29734110hg18UCSC Ensembl
InnerchrX:29551765..29583846hg17UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg3832082
hg1932082
hg1832082
hg1732082
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416212
SamplesNA12892
Known GenesIL1RAPL1
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)nsv818020
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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