A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6538272



Internal ID20911593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:40446301..40449200hg38UCSC Ensembl
chr22:40842305..40845204hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg382900
hg192900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18073827
Samples
Known GenesMKL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6538272
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