A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1418431



Internal ID16059618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:54466067..54491044hg38UCSC Ensembl
Innerchr2:54693204..54718181hg19UCSC Ensembl
Innerchr2:54546708..54571685hg18UCSC Ensembl
Innerchr2:54604855..54629832hg17UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3824978
hg1924978
hg1824978
hg1724978
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv817939
Supporting Variants
SamplesNA19192
Known GenesSPTBN1
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)nssv1418431
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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