A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450313



Internal ID228523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46955125..46955244hg38UCSC Ensembl
chr2:47182264..47182383hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16913275
Samples
Known GenesTTC7A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450313
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