A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543951



Internal ID15510946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:134279180..134340635hg38UCSC Ensembl
Innerchr11:134149074..134210529hg19UCSC Ensembl
Innerchr11:133654284..133715739hg18UCSC Ensembl
Innerchr11:133654284..133715739hg17UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3861456
hg1961456
hg1861456
hg1761456
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468902
Supporting Variants
SamplesHGDP01329
Known GenesGLB1L2, GLB1L3
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)nssv543951
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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