A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450465



Internal ID228671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:176293226..176295828hg38UCSC Ensembl
chr2:177157954..177160556hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg382603
hg192603
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922555
Samples
Known GenesMTX2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450465
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