A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818033



Internal ID16060188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:97533641..97575706hg38UCSC Ensembl
InnerchrX:96788640..96830705hg19UCSC Ensembl
InnerchrX:96675296..96717361hg18UCSC Ensembl
InnerchrX:96594785..96636850hg17UCSC Ensembl
CytobandXq21.33
Allele length
AssemblyAllele length
hg3842066
hg1942066
hg1842066
hg1742066
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417756
SamplesNA18577
Known GenesDIAPH2
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)nsv818033
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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