A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818463



Internal ID16060619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:160014537..160604515hg38UCSC Ensembl
Innerchr6:160435569..161025547hg19UCSC Ensembl
Innerchr6:160355559..160945537hg18UCSC Ensembl
Innerchr6:160405980..160995958hg17UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38589979
hg19589979
hg18589979
hg17589979
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417459
SamplesNA18953
Known GenesIGF2R, LOC729603, LPA, LPAL2, SLC22A1, SLC22A2, SLC22A3
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)nsv818463
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