A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509657



Internal ID15825683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:234201193..234212511hg38UCSC Ensembl
Outerchr1:234336939..234348257hg19UCSC Ensembl
Outerchr1:232403562..232414880hg18UCSC Ensembl
Outerchr1:230643674..230654992hg17UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg383019
hg193019
hg183019
hg173019
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623814, nssv618000, nssv621110, nssv619826
SamplesCHM, NA15510, NA18994, NA10860
Known GenesSLC35F3
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)nsv509657
Frequency
Sample Size4
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer