A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6539225



Internal ID20912529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21602489..21697311hg38UCSC Ensembl
chr22:21956778..22051600hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3894823
hg1994823
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206685
Samples
Known GenesCCDC116, MIR130B, MIR301B, PPIL2, SDF2L1, UBE2L3, YDJC
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6539225
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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