A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5489850



Internal ID267122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:137262564..137268424hg38UCSC Ensembl
chr7:136947311..136953171hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg385861
hg195861
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17003313
Samples
Known GenesPTN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5489850
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