A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818024



Internal ID9373847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:46909534..47050708hg38UCSC Ensembl
InnerchrX:46768969..46910110hg19UCSC Ensembl
InnerchrX:46653913..46795054hg18UCSC Ensembl
InnerchrX:46525223..46666364hg17UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38141175
hg19141142
hg18141142
hg17141142
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417802
SamplesNA12234
Known GenesJADE3
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)nsv818024
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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