A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5535703



Internal ID311301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43588984..43600624hg38UCSC Ensembl
chr22:43984864..43996504hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3811641
hg1911641
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729350
Samples
Known GenesEFCAB6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5535703
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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