A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449051



Internal ID227300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:72911311..72914168hg38UCSC Ensembl
chr2:73138440..73141297hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg382858
hg192858
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16916122
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449051
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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