A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540278



Internal ID315068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:36078954..36079111hg38UCSC Ensembl
chr21:37451252..37451409hg19UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17726744
Samples
Known GenesLOC100133286
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540278
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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