A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv673716



Internal ID15063682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19962905..19999679hg38UCSC Ensembl
Innerchr22:19950428..19987202hg19UCSC Ensembl
Innerchr22:18330428..18367202hg18UCSC Ensembl
Innerchr22:18324982..18361756hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3836775
hg1936775
hg1836775
hg1736775
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517165
Supporting Variants
Samples
Known GenesARVCF, COMT, MIR4761
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv673716
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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