A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543004



Internal ID15508438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:38950400..39051419hg38UCSC Ensembl
Innerchr11:38971950..39072969hg19UCSC Ensembl
Innerchr11:38928526..39029545hg18UCSC Ensembl
Innerchr11:38928526..39029545hg17UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg38101020
hg19101020
hg18101020
hg17101020
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467863
Supporting Variants
SamplesHGDP00822
Known Genes
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)nssv543004
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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