A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5463334



Internal ID241241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172893884..172893938hg38UCSC Ensembl
chr5:172320887..172320941hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16978632
Samples
Known GenesERGIC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5463334
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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