A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449172



Internal ID227417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:168651896..168666730hg38UCSC Ensembl
chr3:168369684..168384518hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg3814835
hg1914835
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16942134
Samples
Known GenesEGFEM1P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449172
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