A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818063



Internal ID16406904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:85320306..85328139hg38UCSC Ensembl
Innerchr2:85547429..85555262hg19UCSC Ensembl
Innerchr2:85400940..85408773hg18UCSC Ensembl
Innerchr2:85459087..85466920hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg387834
hg197834
hg187834
hg177834
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1415937, nssv1417315
SamplesNA12750, NA18608
Known GenesTGOLN2
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)nsv818063
Frequency
Sample Size112
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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