A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818028



Internal ID16060183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:71115426..71118631hg38UCSC Ensembl
Innerchr2:71342556..71345761hg19UCSC Ensembl
Innerchr2:71196064..71199269hg18UCSC Ensembl
Innerchr2:71254211..71257416hg17UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg383206
hg193206
hg183206
hg173206
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416832, nssv1417653, nssv1415573, nssv1416315, nssv1418434, nssv1416314, nssv1418435, nssv1416909, nssv1415584, nssv1416831, nssv1416911, nssv1416313, nssv1417578, nssv1418433, nssv1416910, nssv1416833
SamplesNA18855, NA19192, NA19138, NA19137, NA19238, NA19239, NA19194, NA19142, NA18856, NA18857, NA19140, NA19240, NA18992, NA19193, NA18972, NA19139
Known GenesMCEE
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)nsv818028
Frequency
Sample Size112
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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