A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818234



Internal ID16060389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:77308728..77312923hg38UCSC Ensembl
Innerchr1:77774413..77778608hg19UCSC Ensembl
Innerchr1:77547001..77551196hg18UCSC Ensembl
Innerchr1:77486434..77490629hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg384196
hg194196
hg184196
hg174196
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418348
SamplesNA19141
Known GenesAK5
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)nsv818234
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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