A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818110



Internal ID16060265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:212318971..212326665hg38UCSC Ensembl
Innerchr2:213183696..213191389hg19UCSC Ensembl
Innerchr2:212891941..212899634hg18UCSC Ensembl
Innerchr2:213009202..213016895hg17UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg387695
hg197694
hg187694
hg177694
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417972, nssv1417973
SamplesNA07348, NA07357
Known GenesERBB4
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)nsv818110
Frequency
Sample Size112
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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