A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468643



Internal ID15182022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:78629643..78671072hg38UCSC Ensembl
Innerchr11:78340688..78382117hg19UCSC Ensembl
Innerchr11:78018336..78059765hg18UCSC Ensembl
Innerchr11:78018336..78059765hg17UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg3841430
hg1941430
hg1841430
hg1741430
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543735
SamplesHGDP01332
Known GenesTENM4
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)nsv468643
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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