A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443653



Internal ID222046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:8723542..8724602hg38UCSC Ensembl
chr2:8863672..8864732hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg381061
hg191061
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16909406
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443653
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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