A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5480430



Internal ID257938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:47544968..47547593hg38UCSC Ensembl
chr7:47584566..47587191hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg382626
hg192626
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16995591
Samples
Known GenesTNS3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5480430
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