A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473500



Internal ID251187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:130221081..130620269hg38UCSC Ensembl
chr4:131142236..131541424hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38399189
hg19399189
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16956742
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473500
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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