A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543967



Internal ID15504073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:134479860..134851577hg38UCSC Ensembl
Innerchr11:134349754..134721471hg19UCSC Ensembl
Innerchr11:133854964..134226681hg18UCSC Ensembl
Innerchr11:133854964..134226681hg17UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38371718
hg19371718
hg18371718
hg17371718
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468923
Supporting Variants
Samples1780862540_A
Known GenesLOC283177
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)nssv543967
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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