A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443379



Internal ID221780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74152213..74152274hg38UCSC Ensembl
chr2:74379340..74379401hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16914090
Samples
Known GenesBOLA3-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443379
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