A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509284



Internal ID15476782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:141010114..141129733hg38UCSC Ensembl
Outerchr8:142020213..142139832hg19UCSC Ensembl
Outerchr8:142089395..142209014hg18UCSC Ensembl
Outerchr8:142089395..142209014hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg387317
hg197317
hg187317
hg177317
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619536
SamplesNA10860
Known GenesDENND3
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)nsv509284
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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