A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1417240



Internal ID16058241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:71562872..71568249hg38UCSC Ensembl
Innerchr10:73322629..73328006hg19UCSC Ensembl
Innerchr10:72992635..72998012hg18UCSC Ensembl
Innerchr10:72992635..72998012hg17UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg385378
hg195378
hg185378
hg175378
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv818774
Supporting Variants
SamplesNA18577
Known GenesCDH23
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)nssv1417240
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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