A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442485



Internal ID15154518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54031269..54042112hg38UCSC Ensembl
Innerchr20:52647808..52658651hg19UCSC Ensembl
Innerchr20:52081215..52092058hg18UCSC Ensembl
Innerchr20:52081215..52092058hg17UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3810844
hg1910844
hg1810844
hg1710844
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1660552, nssv1660550, nssv1660553, nssv1660554, nssv1660551, nssv1660549
SamplesNA06993, NA12057, NA12891, NA06991, NA12878, NA12248
Known GenesBCAS1
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)nsv442485
Frequency
Sample Size270
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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