A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818009



Internal ID16406850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:5312556..5361388hg38UCSC Ensembl
InnerchrX:5230597..5279429hg19UCSC Ensembl
InnerchrX:5240597..5289429hg18UCSC Ensembl
InnerchrX:5090333..5139165hg17UCSC Ensembl
CytobandXp22.32
Allele length
AssemblyAllele length
hg3848833
hg1948833
hg1848833
hg1748833
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417768
SamplesNA19003
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)nsv818009
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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