A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818021



Internal ID16406862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:30283124..30287751hg38UCSC Ensembl
InnerchrX:30301241..30305868hg19UCSC Ensembl
InnerchrX:30211162..30215789hg18UCSC Ensembl
InnerchrX:30060898..30065525hg17UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg384628
hg194628
hg184628
hg174628
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416438, nssv1416427
SamplesNA19142, NA19140
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)nsv818021
Frequency
Sample Size112
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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