A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511002



Internal ID15827024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:42789727..42861660hg38UCSC Ensembl
Outerchr11:42811277..42883210hg19UCSC Ensembl
Outerchr11:42767853..42839786hg18UCSC Ensembl
Outerchr11:42767853..42839786hg17UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg3871934
hg1971934
hg1871934
hg1771934
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622355
SamplesNA10860
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)nsv511002
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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