A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621099



Internal ID15473763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:110104072..110134869hg38UCSC Ensembl
Outerchr1:110646694..110677491hg19UCSC Ensembl
Outerchr1:110448217..110479014hg18UCSC Ensembl
Outerchr1:110358736..110389533hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg385433
hg195433
hg185433
hg175433
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509424
Supporting Variants
SamplesNA15510
Known GenesUBL4B
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)nssv621099
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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