A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471682



Internal ID249412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40113883..40123513hg38UCSC Ensembl
chr5:40113985..40123615hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg389631
hg199631
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16965280
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471682
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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