A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1417637



Internal ID16405559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42817913..43035037hg38UCSC Ensembl
Innerchr19:43322065..43539189hg19UCSC Ensembl
Innerchr19:48013905..48231029hg18UCSC Ensembl
Innerchr19:48013905..48231029hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38217125
hg19217125
hg18217125
hg17217125
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv817842
Supporting Variants
SamplesNA18992
Known GenesLOC100289650, PSG1, PSG10P, PSG11, PSG6, PSG7
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)nssv1417637
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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