A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473292



Internal ID250978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:89703133..89705640hg38UCSC Ensembl
chr5:88998950..89001457hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg382508
hg192508
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16968931
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473292
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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