A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619421



Internal ID15818002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:133782215..133873790hg38UCSC Ensembl
Outerchr5:133117906..133209481hg19UCSC Ensembl
Outerchr5:133145805..133237380hg18UCSC Ensembl
Outerchr5:133145805..133237380hg17UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg383485
hg193485
hg183485
hg173485
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509085
Supporting Variants
SamplesNA10860
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)nssv619421
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