A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441966



Internal ID15500685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:142638453..142640448hg38UCSC Ensembl
Innerchr5:142018018..142020013hg19UCSC Ensembl
Innerchr5:141998202..142000197hg18UCSC Ensembl
Innerchr5:141998202..142000197hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg381996
hg191996
hg181996
hg171996
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1657962, nssv1657963, nssv1657964
SamplesNA18855, NA18857, NA18858
Known GenesFGF1
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)nsv441966
Frequency
Sample Size270
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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