A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818743



Internal ID16407584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:6612823..6620173hg38UCSC Ensembl
Innerchr10:6654785..6662135hg19UCSC Ensembl
Innerchr10:6694791..6702141hg18UCSC Ensembl
Innerchr10:6694791..6702141hg17UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg387351
hg197351
hg187351
hg177351
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416257, nssv1416256
SamplesNA10851, NA12057
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)nsv818743
Frequency
Sample Size112
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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