A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817673



Internal ID9373496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:27037601..27163931hg38UCSC Ensembl
Innerchr2:27260469..27386799hg19UCSC Ensembl
Innerchr2:27113973..27240303hg18UCSC Ensembl
Innerchr2:27172120..27298450hg17UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38126331
hg19126331
hg18126331
hg17126331
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416302
SamplesNA18855
Known GenesABHD1, AGBL5, C2orf53, CGREF1, EMILIN1, KHK, OST4, PREB, TCF23, TMEM214
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)nsv817673
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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