A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1416291



Internal ID16057439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:6558309..6939189hg38UCSC Ensembl
InnerchrX:6476350..6857230hg19UCSC Ensembl
InnerchrX:6486350..6867230hg18UCSC Ensembl
InnerchrX:6336086..6716966hg17UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg38380881
hg19380881
hg18380881
hg17380881
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv818011
Supporting Variants
SamplesNA12057
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)nssv1416291
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