A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818041



Internal ID16060196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:149767070..149846194hg38UCSC Ensembl
InnerchrX:148848731..148975006hg19UCSC Ensembl
InnerchrX:148656541..148735664hg18UCSC Ensembl
InnerchrX:148554395..148633518hg17UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3879125
hg19126276
hg1879124
hg1779124
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416620, nssv1416621
SamplesNA19172, NA19173
Known GenesHSFX1, HSFX2, MAGEA9, MAGEA9B
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)nsv818041
Frequency
Sample Size112
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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