A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818749



Internal ID16407590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:18088414..18103197hg38UCSC Ensembl
Innerchr10:18377343..18392126hg19UCSC Ensembl
Innerchr10:18417349..18432132hg18UCSC Ensembl
Innerchr10:18417349..18432132hg17UCSC Ensembl
Cytoband10p12.33
Allele length
AssemblyAllele length
hg3814784
hg1914784
hg1814784
hg1714784
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416086, nssv1416087
SamplesNA12801, NA12813
Known Genes
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)nsv818749
Frequency
Sample Size112
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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