A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620863



Internal ID15820214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:94212615..94258411hg38UCSC Ensembl
Outerchr11:93945781..93991577hg19UCSC Ensembl
Outerchr11:93585429..93631225hg18UCSC Ensembl
Outerchr11:93585429..93631225hg17UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg3849581
hg1949581
hg1849581
hg1749581
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509438
Supporting Variants
SamplesNA15510
Known Genes
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)nssv620863
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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