A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619424



Internal ID15818005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:92310295..92360420hg38UCSC Ensembl
Outerchr11:92043461..92093586hg19UCSC Ensembl
Outerchr11:91683109..91733234hg18UCSC Ensembl
Outerchr11:91683109..91733234hg17UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg383468
hg193468
hg183468
hg173468
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509437
Supporting Variants
SamplesNA10860
Known GenesFAT3
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)nssv619424
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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