A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509416



Internal ID15476914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:62779642..62876986hg38UCSC Ensembl
Outerchr11:62547114..62644458hg19UCSC Ensembl
Outerchr11:62303690..62401034hg18UCSC Ensembl
Outerchr11:62303690..62401034hg17UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg387306
hg197306
hg187306
hg177306
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619376
SamplesNA10860
Known GenesMIR6514, MIR6748, NXF1, SLC3A2, SNHG1, SNORD22, SNORD25, SNORD26, SNORD27, SNORD28, SNORD29, SNORD30, SNORD31, STX5, TAF6L, TMEM179B, TMEM223, WDR74
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)nsv509416
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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