A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5419167



Internal ID198311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:29006350..29006401hg38UCSC Ensembl
chr21:30378671..30378722hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17726499
Samples
Known GenesRWDD2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5419167
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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