A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441887



Internal ID15500606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:70362548..70383331hg38UCSC Ensembl
Innerchr4:71228265..71249048hg19UCSC Ensembl
Innerchr4:71262854..71283637hg18UCSC Ensembl
Innerchr4:71409025..71429808hg17UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3820784
hg1920784
hg1820784
hg1720784
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1657558, nssv1657556, nssv1657555, nssv1657557
SamplesNA18603, NA18579, NA18564, NA18623
Known GenesSMR3A, SMR3B
MethodSNP array
AnalysisWe used two computational approaches to identify CNVs: the hidden Markov model Birdseye, and an approach based on correlation between nearby probes across a population sample. To maximize the quality of reported findings, we ran duplicate experiments in independent labs, and report the CNVs that were observed in both experiments, in the same samples and at essentially identical genomic locations.
Platform[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array
Comments
ReferenceMcCarroll_et_al_2008
Pubmed ID18776908
Accession Number(s)nsv441887
Frequency
Sample Size270
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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