A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5535972



Internal ID311541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:20679564..21209564hg38UCSC Ensembl
chr22:21033852..21563853hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38530001
hg19530002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17727728
Samples
Known GenesAIFM3, BCRP2, CRKL, FAM230B, LOC400891, LZTR1, P2RX6, P2RX6P, PI4KA, POM121L4P, SERPIND1, SLC7A4, SNAP29, THAP7, THAP7-AS1, TMEM191A, TUBA3FP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5535972
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