A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469856



Internal ID15187885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:67871566..68092023hg38UCSC Ensembl
Innerchr11:67639037..67859490hg19UCSC Ensembl
Innerchr11:67395613..67616066hg18UCSC Ensembl
Innerchr11:67414397..67634850hg16UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38220458
hg19220454
hg18220454
hg16220454
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1675052, nssv1675385, nssv1673808, nssv1674183, nssv1673851, nssv1673037, nssv1676564, nssv1676299, nssv1672929, nssv1672801, nssv1672605, nssv1676251, nssv1675519, nssv1674213, nssv1676162, nssv1674280, nssv1675784, nssv1676709, nssv1674706, nssv1675074, nssv1673066, nssv1673718, nssv1676330, nssv1675320, nssv1672957, nssv1674595
Samples
Known GenesALDH3B1, CHKA, MIR4691, MIR6753, MIR7113, NDUFS8, TCIRG1, UNC93B1
MethodBAC aCGH
AnalysisA locus was considered a CNV if the log ratio of fluorescence measurements for the individuals assayed exceeded twice the SD of the autosomal clones in both dye-swapped experiments.
PlatformGPL4010
Comments
ReferenceLocke_et_al_2006
Pubmed ID16826518
Accession Number(s)nsv469856
Frequency
Sample Size265
Observed Gain26
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer