A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818462



Internal ID16407303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:154392627..154402774hg38UCSC Ensembl
Innerchr6:154713761..154723908hg19UCSC Ensembl
Innerchr6:154755453..154765600hg18UCSC Ensembl
Innerchr6:154805874..154816021hg17UCSC Ensembl
Cytoband6q25.2
Allele length
AssemblyAllele length
hg3810148
hg1910148
hg1810148
hg1710148
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416553, nssv1416552
SamplesNA19171, NA19173
Known Genes
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)nsv818462
Frequency
Sample Size112
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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