A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818105



Internal ID16060260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:186558571..186617108hg38UCSC Ensembl
Innerchr2:187423298..187481835hg19UCSC Ensembl
Innerchr2:187131543..187190080hg18UCSC Ensembl
Innerchr2:187248804..187307341hg17UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3858538
hg1958538
hg1858538
hg1758538
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1415819, nssv1415820
SamplesNA10860, NA11992
Known GenesITGAV
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)nsv818105
Frequency
Sample Size112
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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