A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5398968



Internal ID178362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:30673545..30673596hg38UCSC Ensembl
chr2:30896411..30896462hg19UCSC Ensembl
Cytoband2p23.1
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 Variantsnssv16910430
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5398968
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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