A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619398



Internal ID15817979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:483833..579008hg38UCSC Ensembl
Outerchr5:483948..579123hg19UCSC Ensembl
Outerchr5:536948..632123hg18UCSC Ensembl
Outerchr5:536948..632123hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg385041
hg195041
hg185041
hg175041
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509042
Supporting Variants
SamplesNA10860
Known GenesMIR4456, SLC9A3
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)nssv619398
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