A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1416574



Internal ID16406282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:62303056..62310322hg38UCSC Ensembl
Innerchr8:63215615..63222881hg19UCSC Ensembl
Innerchr8:63378169..63385435hg18UCSC Ensembl
Innerchr8:63378169..63385435hg17UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg387267
hg197267
hg187267
hg177267
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv818634
Supporting Variants
SamplesNA19173
Known GenesNKAIN3
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)nssv1416574
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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