A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5550448



Internal ID324002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:71582446..71582482hg38UCSC Ensembl
chr5:70878273..70878309hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16966864
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5550448
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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