A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448174



Internal ID226455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70212845..70214348hg38UCSC Ensembl
chr2:70439977..70441480hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg381504
hg191504
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16914431
Samples
Known GenesTIA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448174
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