A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448211



Internal ID226492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:169485713..169486042hg38UCSC Ensembl
chr3:169203501..169203830hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16943112
Samples
Known GenesMECOM
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448211
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