A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5459300



Internal ID237317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42342970..42346871hg38UCSC Ensembl
chr6:42310708..42314609hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg383902
hg193902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16981624
Samples
Known GenesTRERF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5459300
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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