A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1415931



Internal ID16057352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:24115349..24160925hg38UCSC Ensembl
InnerchrX:24133466..24179042hg19UCSC Ensembl
InnerchrX:24043387..24088963hg18UCSC Ensembl
InnerchrX:23893123..23938699hg17UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg3845577
hg1945577
hg1845577
hg1745577
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv818019
Supporting Variants
SamplesNA11995
Known GenesZFX, ZFX-AS1
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)nssv1415931
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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