A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509424



Internal ID15476922
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
hg384302
hg194302
hg184302
hg174302
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621099, nssv619811
SamplesNA15510, NA10860
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)nsv509424
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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