A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558908



Internal ID331960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:216994074..216994125hg38UCSC Ensembl
chr2:217858797..217858848hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg386016
hg196016
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925938
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558908
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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