A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818022



Internal ID16406863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:31428686..31462918hg38UCSC Ensembl
InnerchrX:31446803..31481035hg19UCSC Ensembl
InnerchrX:31356724..31390956hg18UCSC Ensembl
InnerchrX:31206460..31240692hg17UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg3834233
hg1934233
hg1834233
hg1734233
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416213
SamplesNA12892
Known GenesDMD
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)nsv818022
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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