A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5986674



Internal ID21896017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143054841..143063884hg38UCSC Ensembl
chr2:143812410..143821453hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg389044
hg199044
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17519133
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5986674
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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