A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5529438



Internal ID305454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49718685..49726349hg38UCSC Ensembl
chr20:48335222..48342886hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg387665
hg197665
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732840
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5529438
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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