A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818032



Internal ID16406873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:80493752..80530435hg38UCSC Ensembl
InnerchrX:79749251..79785934hg19UCSC Ensembl
InnerchrX:79635907..79672590hg18UCSC Ensembl
InnerchrX:79555396..79592079hg17UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3836684
hg1936684
hg1836684
hg1736684
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417958
SamplesNA18852
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)nsv818032
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer