A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953026



Internal ID16955213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:19950978..20070877hg38UCSC Ensembl
Outerchr22:19938501..20058400hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38119900
hg19119900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000748
SamplesBILGI_BIOE
Known GenesARVCF, COMT, MIR185, MIR4761, TANGO2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953026
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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