A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818917



Internal ID9374740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52297319..52388357hg38UCSC Ensembl
Innerchr12:52691103..52782141hg19UCSC Ensembl
Innerchr12:50977370..51068408hg18UCSC Ensembl
Innerchr12:50977370..51068408hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3891039
hg1991039
hg1891039
hg1791039
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418397
SamplesNA12239
Known GenesKRT83, KRT84, KRT85, KRT86
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)nsv818917
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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