A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510805



Internal ID15826830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:26906109..27004668hg38UCSC Ensembl
Outerchr22:27302072..27400631hg19UCSC Ensembl
Outerchr22:25632072..25730631hg18UCSC Ensembl
Outerchr22:25626626..25725185hg17UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg3898560
hg1998560
hg1898560
hg1798560
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622803
SamplesNA18994
Known Genes
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)nsv510805
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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