A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508860



Internal ID15824886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:113941324..113956348hg38UCSC Ensembl
Outerchr2:114698901..114713925hg19UCSC Ensembl
Outerchr2:114415371..114430395hg18UCSC Ensembl
Outerchr2:114415131..114430155hg17UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg383498
hg193498
hg183498
hg173498
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623872, nssv618008
SamplesCHM, NA18994
Known GenesACTR3
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)nsv508860
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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