A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468577



Internal ID15181956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:56736252..56936567hg38UCSC Ensembl
Innerchr11:56503728..56704042hg19UCSC Ensembl
Innerchr11:56260304..56460618hg18UCSC Ensembl
Innerchr11:56260304..56460618hg17UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg38200316
hg19200315
hg18200315
hg17200315
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543691
SamplesHGDP00862
Known GenesMIR6128, OR9G4
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)nsv468577
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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