A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5398810



Internal ID178205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:60417037..60417088hg38UCSC Ensembl
chr2:60644172..60644223hg19UCSC Ensembl
Cytoband2p16.1
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 Variantsnssv16914274
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5398810
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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