A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2n64



Internal ID22780911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16021917..16041829hg38UCSC Ensembl
chr1:16348412..16368324hg19UCSC Ensembl
chr1:16220999..16240911hg18UCSC Ensembl
chr1:16093718..16113630hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3819913
hg1919913
hg1819913
hg1719913
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv818067, nsv818078
SamplesNA19172, NA19194, NA19193, NA19143, NA19173
Known GenesCLCNKA
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)dgv2n64
Frequency
Sample Size112
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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