A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817795



Internal ID16059950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:42751092..42768708hg38UCSC Ensembl
Innerchr2:42978232..42995848hg19UCSC Ensembl
Innerchr2:42831736..42849352hg18UCSC Ensembl
Innerchr2:42889883..42907499hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3817617
hg1917617
hg1817617
hg1717617
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416306
SamplesNA18855
Known GenesHAAO, MTA3, OXER1
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)nsv817795
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