A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508636



Internal ID15480312
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
hg3897345
hg1997345
hg1897345
hg1797345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619945
SamplesNA15510
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)nsv508636
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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