A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509805



Internal ID15477303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:17081417..17267685hg38UCSC Ensembl
Outerchr22:17562307..17748575hg19UCSC Ensembl
Outerchr22:15942307..16128575hg18UCSC Ensembl
Outerchr22:15936861..16123129hg17UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg3810049
hg1910049
hg1810049
hg1710049
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621142
SamplesNA15510
Known GenesCECR1, CECR3, CECR5, CECR5-AS1, CECR6, IL17RA, LOC100996342
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)nsv509805
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