A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511076



Internal ID15478570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:35636220..35751749hg38UCSC Ensembl
Outerchr22:36032267..36147796hg19UCSC Ensembl
Outerchr22:34362213..34477742hg18UCSC Ensembl
Outerchr22:34356767..34472296hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38115530
hg19115530
hg18115530
hg17115530
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624371, nssv618616
SamplesCHM, NA18994
Known GenesAPOL5, APOL6, RBFOX2
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)nsv511076
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex2
Frequencyn/a


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