A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817728



Internal ID16059883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12800601..12854043hg38UCSC Ensembl
Innerchr1:12860749..12913896hg19UCSC Ensembl
Innerchr1:12783336..12836483hg18UCSC Ensembl
Innerchr1:12795015..12848162hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3853443
hg1953148
hg1853148
hg1753148
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417408, nssv1418245, nssv1417095, nssv1418336, nssv1418244, nssv1418338
SamplesNA18951, NA10847, NA18529, NA12239, NA19094, NA19092
Known GenesHNRNPCL1, LOC649330, PRAMEF11
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)nsv817728
Frequency
Sample Size112
Observed Gain4
Observed Loss2
Observed Complex0
Frequencyn/a


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