A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453816



Internal ID231927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:67044136..67104159hg38UCSC Ensembl
chr2:67271268..67331291hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3860024
hg1960024
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16914423
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453816
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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