A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509723



Internal ID15477221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:19517547..19595561hg38UCSC Ensembl
Outerchr19:19628356..19706370hg19UCSC Ensembl
Outerchr19:19489356..19567370hg18UCSC Ensembl
Outerchr19:19489356..19567370hg17UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg384652
hg194652
hg184652
hg174652
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621061
SamplesNA15510
Known GenesCILP2, NDUFA13, PBX4, YJEFN3
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)nsv509723
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