A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818500



Internal ID16060656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161541303..161647726hg38UCSC Ensembl
Innerchr1:161511093..161617516hg19UCSC Ensembl
Innerchr1:159777717..159884140hg18UCSC Ensembl
Innerchr1:158324148..158349210hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38106424
hg19106424
hg18106424
hg1725063
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1415735
SamplesNA12875
Known GenesFCGR2C, FCGR3A, FCGR3B, HSPA7
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)nsv818500
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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