A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5442652



Internal ID221073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:133430912..133441772hg38UCSC Ensembl
chr2:134188483..134199343hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3810861
hg1910861
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16919249
Samples
Known GenesMIR7853, NCKAP5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5442652
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