A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519681



Internal ID15446974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:33220819..33228859hg38UCSC Ensembl
Innerchr22:33616805..33624845hg19UCSC Ensembl
Innerchr22:31946805..31954845hg18UCSC Ensembl
Innerchr22:31941359..31949399hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg388041
hg198041
hg188041
hg178041
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv689940, nssv686228, nssv657551, nssv681125
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519681
Frequency
Sample Size2026
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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