A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6551060



Internal ID20924200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30642747..30644546hg38UCSC Ensembl
chr22:31038734..31040533hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg381800
hg191800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18073689
Samples
Known GenesSLC35E4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6551060
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