A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818491



Internal ID16407332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:19373648..19508326hg38UCSC Ensembl
Innerchr7:19413271..19547949hg19UCSC Ensembl
Innerchr7:19379796..19514474hg18UCSC Ensembl
Innerchr7:19186511..19321189hg17UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg38134679
hg19134679
hg18134679
hg17134679
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418002, nssv1418003
SamplesNA07345, NA07348
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)nsv818491
Frequency
Sample Size112
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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