A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441686



Internal ID15500405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:21994018..22010750hg38UCSC Ensembl
Innerchr1:22320511..22337243hg19UCSC Ensembl
Innerchr1:22193098..22209830hg18UCSC Ensembl
Innerchr1:22065817..22082549hg17UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3816733
hg1916733
hg1816733
hg1716733
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1656603, nssv1656619, nssv1656609, nssv1656608, nssv1656611, nssv1656610, nssv1656620, nssv1656600, nssv1656621, nssv1656606, nssv1656602, nssv1656614, nssv1656615, nssv1656604, nssv1656605, nssv1656617, nssv1656601, nssv1656616, nssv1656618, nssv1656607, nssv1656612, nssv1656613
SamplesNA18861, NA18545, NA19171, NA19005, NA18949, NA18970, NA19007, NA18991, NA18529, NA18948, NA18981, NA19154, NA18570, NA19012, NA19003, NA19206, NA18863, NA12057, NA18994, NA18972, NA18522, NA19153
Known GenesCELA3A
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)nsv441686
Frequency
Sample Size270
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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