A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623421



Internal ID15475308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:63485643..63569743hg38UCSC Ensembl
Outerchr11:63253115..63337215hg19UCSC Ensembl
Outerchr11:63009691..63093791hg18UCSC Ensembl
Outerchr11:63009691..63093791hg17UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg384302
hg194302
hg184302
hg174302
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509417
Supporting Variants
SamplesNA18994
Known GenesHRASLS2, HRASLS5, LGALS12, MIR3680-1, MIR3680-2, RARRES3
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)nssv623421
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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