A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511100



Internal ID15827122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:148551065..148629618hg38UCSC Ensembl
Outerchr3:148268852..148347405hg19UCSC Ensembl
Outerchr3:149751542..149830095hg18UCSC Ensembl
Outerchr3:149751550..149830103hg17UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg3878554
hg1978554
hg1878554
hg1778554
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621564
SamplesNA15510
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)nsv511100
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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