A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1418125



Internal ID16403837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:23493376..23531932hg38UCSC Ensembl
InnerchrX:23511493..23550049hg19UCSC Ensembl
InnerchrX:23421414..23459970hg18UCSC Ensembl
InnerchrX:23271150..23309706hg17UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg3838557
hg1938557
hg1838557
hg1738557
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv818018
Supporting Variants
SamplesNA10859
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)nssv1418125
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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