A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453116



Internal ID231250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:124920305..124920774hg38UCSC Ensembl
chr2:125677882..125678351hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38470
hg19470
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16919957
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453116
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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