A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5527214



Internal ID303318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:16868672..16999419hg38UCSC Ensembl
chr21:18240992..18371739hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38130748
hg19130748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17726075
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5527214
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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