A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450215



Internal ID228431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:71091151..71094662hg38UCSC Ensembl
chr2:71318281..71321792hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg383512
hg193512
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16916051
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450215
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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