A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620858



Internal ID15820210
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
hg384124
hg194124
hg184124
hg174124
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509437
Supporting Variants
SamplesNA15510
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)nssv620858
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer