A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5458713



Internal ID236733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:45301604..45301671hg38UCSC Ensembl
chr6:45269341..45269408hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16981703
Samples
Known GenesSUPT3H
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5458713
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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