A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818411



Internal ID16060566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:145687602..145809105hg38UCSC Ensembl
Innerchr1:145625979..145747463hg19UCSC Ensembl
Innerchr1:144337336..144458820hg18UCSC Ensembl
Innerchr1:143115023..143236507hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38121504
hg19121485
hg18121485
hg17121485
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417650
SamplesNA18992
Known GenesCD160, LOC100288142, NBPF10, PDZK1, RNF115
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)nsv818411
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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