A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509497



Internal ID15476995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:21684122..21745832hg38UCSC Ensembl
Outerchr13:22258261..22319971hg19UCSC Ensembl
Outerchr13:21156261..21217971hg18UCSC Ensembl
Outerchr13:21156261..21217971hg17UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg383497
hg193497
hg183497
hg173497
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619627, nssv623642
SamplesNA18994, NA10860
Known GenesFGF9
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)nsv509497
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