A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468781



Internal ID15182160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:89179523..89538618hg38UCSC Ensembl
Innerchr11:88912691..89271786hg19UCSC Ensembl
Innerchr11:88552339..88911434hg18UCSC Ensembl
Innerchr11:88552339..88911434hg17UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg38359096
hg19359096
hg18359096
hg17359096
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543865
SamplesHGDP00664
Known GenesNOX4, TYR
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv468781
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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