A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5457313



Internal ID235361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:38679337..38680710hg38UCSC Ensembl
chr6:38647113..38648486hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg381374
hg191374
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16983669
Samples
Known GenesGLO1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5457313
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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