A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509042



Internal ID15825068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:483833..720373hg38UCSC Ensembl
Outerchr5:483948..720488hg19UCSC Ensembl
Outerchr5:536948..773488hg18UCSC Ensembl
Outerchr5:536948..773488hg17UCSC 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 StatusM
Merged Variants
Supporting Variantsnssv623430, nssv619398, nssv619399, nssv623431
SamplesNA18994, NA10860
Known GenesCEP72, LOC100996325, MIR4456, SLC9A3, TPPP
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)nsv509042
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