A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618085



Internal ID15817240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:18926684..18926684hg38UCSC Ensembl
Outerchr11:18948231..18948231hg19UCSC Ensembl
Outerchr11:18904807..18904807hg18UCSC Ensembl
Outerchr11:18904807..18904807hg17UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3822419
hg1922419
hg1822419
hg1722419
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509394
Supporting Variants
SamplesCHM
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)nssv618085
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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