A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442781



Internal ID15154814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:47151467..47160290hg38UCSC Ensembl
Innerchr20:45780106..45788929hg19UCSC Ensembl
Innerchr20:45213513..45222336hg18UCSC Ensembl
Innerchr20:45213513..45222336hg17UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg388824
hg198824
hg188824
hg178824
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1653561, nssv1653556, nssv1653558, nssv1653555, nssv1653560, nssv1653559, nssv1653562, nssv1653554, nssv1653557
SamplesNA18542, NA18576, NA18622, NA18990, NA18636, NA18637, NA19000, NA18945, NA18987
Known GenesEYA2
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)nsv442781
Frequency
Sample Size270
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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