A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623531



Internal ID15822104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:107351915..107386759hg38UCSC Ensembl
Outerchr11:107222641..107257485hg19UCSC Ensembl
Outerchr11:106727851..106762695hg18UCSC Ensembl
Outerchr11:106727851..106762695hg17UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg386884
hg196884
hg186884
hg176884
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv509441
Supporting Variants
SamplesNA18994
Known GenesCWF19L2
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nssv623531
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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