A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5523510



Internal ID299739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:14569985..14827418hg38UCSC Ensembl
chr21:15942306..16199739hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38257434
hg19257434
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17734063
Samples
Known GenesLOC388813, SAMSN1, SAMSN1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5523510
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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