A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818038



Internal ID16406879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:140958435..140981130hg38UCSC Ensembl
InnerchrX:140040600..140063295hg19UCSC Ensembl
InnerchrX:139868266..139890961hg18UCSC Ensembl
InnerchrX:139766120..139788815hg17UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg3822696
hg1922696
hg1822696
hg1722696
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417758
SamplesNA18949
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)nsv818038
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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