A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1675074



Internal ID15185896
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 StatusS
Merged Variantsnsv469856
Supporting Variants
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)nssv1675074
Frequency
Sample Size265
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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