A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448893



Internal ID227148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:144799522..144805757hg38UCSC Ensembl
chr2:145557089..145563324hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg386236
hg196236
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16920449
Samples
Known GenesTEX41
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448893
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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