A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818010



Internal ID16060165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:6540125..6925879hg38UCSC Ensembl
InnerchrX:6458166..6843920hg19UCSC Ensembl
InnerchrX:6468166..6853920hg18UCSC Ensembl
InnerchrX:6317902..6703656hg17UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg38385755
hg19385755
hg18385755
hg17385755
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv73n64
Supporting Variantsnssv1417765
SamplesNA18992
Known Genes
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)nsv818010
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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