A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1417600



Internal ID16058829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:76173678..76175624hg38UCSC Ensembl
Innerchr4:77094831..77096777hg19UCSC Ensembl
Innerchr4:77313855..77315801hg18UCSC Ensembl
Innerchr4:77452010..77453956hg17UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg381947
hg191947
hg181947
hg171947
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv818244
Supporting Variants
SamplesNA18978
Known GenesSCARB2
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)nssv1417600
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer