A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509005



Internal ID15825031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:65931332..65959051hg38UCSC Ensembl
Outerchr4:66797050..66824769hg19UCSC Ensembl
Outerchr4:66479645..66507364hg18UCSC Ensembl
Outerchr4:66625816..66653535hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg383380
hg193380
hg183380
hg173380
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620788
SamplesNA15510
Known Genes
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)nsv509005
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