A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448185



Internal ID226466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:139765115..139816547hg38UCSC Ensembl
chr2:140522684..140574116hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3851433
hg1951433
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16918902
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448185
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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