A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5560308



Internal ID333318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:189204429..189204438hg38UCSC Ensembl
chr2:190069155..190069164hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38351
hg19351
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16923234
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5560308
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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