A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6542775



Internal ID20916027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:23113330..23116154hg38UCSC Ensembl
chr22:23455517..23458341hg19UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg382825
hg192825
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18073533
Samples
Known GenesGNAZ, RTDR1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6542775
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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