A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5437688



Internal ID216273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49480418..49484900hg38UCSC Ensembl
chr3:49517851..49522333hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg384483
hg194483
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16933356
Samples
Known GenesDAG1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5437688
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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