A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1416303



Internal ID16058498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:27434300..27623736hg38UCSC Ensembl
Innerchr2:27657167..27846603hg19UCSC Ensembl
Innerchr2:27510671..27700107hg18UCSC Ensembl
Innerchr2:27568818..27758254hg17UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg38189437
hg19189437
hg18189437
hg17189437
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv817684
Supporting Variants
SamplesNA18855
Known GenesC2orf16, FNDC4, GCKR, IFT172, KRTCAP3, NRBP1, ZNF512
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)nssv1416303
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