A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508919



Internal ID15476417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:50596756..50676338hg38UCSC Ensembl
Outerchr3:50634187..50713769hg19UCSC Ensembl
Outerchr3:50609191..50688773hg18UCSC Ensembl
Outerchr3:50609191..50688773hg17UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg383358
hg193358
hg183358
hg173358
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619326
SamplesNA10860
Known GenesCISH, DOCK3, MAPKAPK3, MIR4787
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)nsv508919
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