A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441886



Internal ID15153919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68813177..68851497hg38UCSC Ensembl
Innerchr4:69678895..69717215hg19UCSC Ensembl
Innerchr4:69713484..69751804hg18UCSC Ensembl
Innerchr4:69859655..69897975hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3838321
hg1938321
hg1838321
hg1738321
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1657551, nssv1657554, nssv1657553, nssv1657552
SamplesNA18861, NA18855, NA19128, NA18857
Known GenesUGT2B10
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)nsv441886
Frequency
Sample Size270
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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