A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509362



Internal ID15825388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:96404936..96441057hg38UCSC Ensembl
Outerchr10:98164693..98200814hg19UCSC Ensembl
Outerchr10:98154683..98190804hg18UCSC Ensembl
Outerchr10:98154683..98190804hg17UCSC Ensembl
Cytoband10q24.1
Allele length
AssemblyAllele length
hg383418
hg193418
hg183418
hg173418
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623736
SamplesNA18994
Known GenesTLL2
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)nsv509362
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer