A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1417711



Internal ID16058912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161525250..161677034hg38UCSC Ensembl
Innerchr1:161495040..161646824hg19UCSC Ensembl
Innerchr1:159761664..159913448hg18UCSC Ensembl
Innerchr1:158308095..158378491hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38151785
hg19151785
hg18151785
hg1770397
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv818489
Supporting Variants
SamplesNA18999
Known GenesFCGR2B, FCGR2C, FCGR3A, FCGR3B, HSPA6, 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)nssv1417711
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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