A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5464380



Internal ID242258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:138104871..138104958hg38UCSC Ensembl
chr6:138426008..138426095hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16970168
Samples
Known GenesPERP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5464380
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