A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5549418



Internal ID323083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:32433902..32433902hg38UCSC Ensembl
chr21:33806210..33806210hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17726600
Samples
Known GenesEVA1C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5549418
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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