A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1416214



Internal ID16057431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:115185327..115526418hg38UCSC Ensembl
Innerchr1:115727948..116069039hg19UCSC Ensembl
Innerchr1:115529471..115870562hg18UCSC Ensembl
Innerchr1:115439990..115781081hg17UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38341092
hg19341092
hg18341092
hg17341092
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv818389
Supporting Variants
SamplesNA12057
Known GenesNGF
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)nssv1416214
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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